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16Q24.3 Microdeletion Syndrome
17-beta hydroxysteroid dehydrogenase 3 deficiency +
2-aminoadipic 2-oxoadipic aciduria
22q11 Deletion Syndrome +
3-hydroxy-3-methylglutaryl-CoA lyase deficiency
3-hydroxyisobutryl-CoA hydrolase deficiency
3-methylcrotonyl-CoA carboxylase deficiency +
3-methylglutaconic aciduria type 1
3-methylglutaconic aciduria type 3
3-methylglutaconic aciduria type 4
3-methylglutaconic aciduria type 5
3-methylglutaconic aciduria type 8
3-methylglutaconic aciduria type 9
3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia +
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
Abderhalden-Kaufmann-Lignac Syndrome
ablepharon macrostomia syndrome
Abruzzo-Erickson syndrome
Absence or Hypoplasia of Tibia with Polydactyly, Retrocerebellar Arachnoid Cyst, and Other Anomalies
Absent Eyebrows and Eyelashes with Mental Retardation
achalasia microcephaly syndrome
acrocapitofemoral dysplasia
acrocardiofacial syndrome
Acrocephalopolydactylous Dysplasia
acrofacial dysostosis Rodriguez type
acrofacial dysostosis, Patagonia type
Acromegaloid Facial Appearance Syndrome
Acromegaloid Features, Overgrowth, Cleft Palate, and Hernia
acromesomelic dysplasia, Grebe type
acromesomelic dysplasia, Hunter-Thompson type
acromesomelic dysplasia, Maroteaux type
acromesomelic dysplasia-4
Acrorenal Mandibular Syndrome
Acute Retroviral Syndrome
Adducted Thumbs Syndrome +
adenine phosphoribosyltransferase deficiency
adult respiratory distress syndrome
adult spinal muscular atrophy
Agenesis of Corpus Callosum with Facial Anomalies and Robin Sequence
agenesis of corpus callosum, cardiac, ocular, and genital syndrome
agenesis of the corpus callosum with peripheral neuropathy
Agonadism, XY, with Mental Retardation, Short Stature, Retarded Bone Age, and Multiple Extragenital Malformations
AICAR Transformylase Inosine Monophosphate Cyclohydrolase Deficiency
Aksu von Stockhausen Syndrome
Al Gazali Aziz Salem Syndrome
Al Gazali Hirschsprung Syndrome
Al Gazali Khidr Prem Chandran Syndrome
Al Gazali Sabrinathan Nair Syndrome
alacrima, achalasia, and impaired intellectual development syndrome
Alaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, and Diabetes Mellitus
Albinism Deafness Syndrome
Alice in Wonderland Syndrome
Alkuraya-Kucinskas syndrome
Allan-Herndon-Dudley syndrome
Aloi Tomasini Isaia Syndrome
Alopecia Contractures Dwarfism Mental Retardation
Alopecia, Epilepsy, Pyorrhea, Mental Subnormality
alopecia, neurologic defects, and endocrinopathy syndrome
Alopecia-Epilepsy-Oligophrenia Syndrome of Moynahan
alopecia-mental retardation syndrome +
alopecia-mental retardation syndrome 1
alopecia-mental retardation syndrome 2
alopecia-mental retardation syndrome 3
alopecia-mental retardation syndrome 4
Alpers-Huttenlocher syndrome +
alpha thalassemia-intellectual disability syndrome type 1
alpha thalassemia-X-linked intellectual disability syndrome
alpha-2-plasmin inhibitor deficiency
Alves Castelo dos Santos Syndrome
amelogenesis imperfecta hypomaturation type 2A2
amelogenesis imperfecta hypomaturation type 2A3
amelogenesis imperfecta hypomaturation type 2A4
amelogenesis imperfecta hypomaturation type 2A5
amelogenesis imperfecta type 1C
amelogenesis imperfecta type 1F
amelogenesis imperfecta type 1G
amelogenesis imperfecta type 1H
amelogenesis imperfecta type 1J
amelogenesis imperfecta type 2A1
amelogenesis imperfecta type 2A6
amelogenesis imperfecta type 3C
Ameloonychohypohidrotic Syndrome
Amino Aciduria with Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, and Acidosis
Amyloidosis of Gingiva and Conjunctiva, with Mental Retardation
Amyotrophic Dystonic Paraplegia
amyotrophic lateral sclerosis type 1
androgen insensitivity syndrome +
ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
Anonychia-Onychodystrophy with Hypoplasia or Absence of Distal Phalanges
Anophthalmia Plus Syndrome
Ansell Bywaters Elderking Syndrome
anterior segment dysgenesis 2 +
anterior segment dysgenesis 7
anterior segment dysgenesis 8
anterior spinal artery syndrome
antiphospholipid syndrome +
antithrombin III deficiency
Antley-Bixler syndrome with disordered steroidogenesis
Aortic Arch Anomaly with Peculiar Facies and Mental Retardation
aplasia of lacrimal and salivary glands
apparent mineralocorticoid excess syndrome
Arachnodactyly-Ataxia-Cataract-Aminoaciduria-Mental Retardation
Arnold Stickler Bourne Syndrome
Arroyo Garcia Cimadevilla Syndrome
arterial tortuosity syndrome
Arthrogryposis Epileptic Seizures Migrational Brain Disorder
arthrogryposis multiplex congenita +
Arthrogryposis Multiplex Congenita Whistling Face
Arthrogryposis, Impaired Intellectual Development, and Seizures
asphyxiating thoracic dystrophy +
asphyxiating thoracic dystrophy 1
asphyxiating thoracic dystrophy 2
asphyxiating thoracic dystrophy 3
asphyxiating thoracic dystrophy 4
asphyxiating thoracic dystrophy 5
Asrar Facharzt Haque Syndrome
Asymmetric Short Stature Syndrome
ATAXIA, SPASTIC, CHILDHOOD-ONSET, AUTOSOMAL RECESSIVE, WITH OPTIC ATROPHY AND MENTAL RETARDATION
Ataxia-Microcephaly-Cataract Syndrome
Athabaskan brainstem dysgenesis syndrome
atrichia with papular lesions
Aural Atresia, Multiple Congenital Anomalies, and Mental Retardation
Auriculocondylar Syndrome +
Ausems Wittebol-Post Hennekam Syndrome
autoimmune lymphoproliferative syndrome type 2B
autoimmune lymphoproliferative syndrome type 3
Autosomal Dominant Compelling Helio Ophthalmic Outburst Syndrome
autosomal dominant congenital deafness with onychodystrophy
autosomal dominant intellectual developmental disorder +
autosomal dominant intellectual developmental disorder 22
autosomal recessive Alport syndrome
autosomal recessive centronuclear myopathy +
autosomal recessive cerebellar ataxia +
autosomal recessive chronic granulomatous disease 1
autosomal recessive chronic granulomatous disease 2
autosomal recessive chronic granulomatous disease 3
autosomal recessive chronic granulomatous disease 4
autosomal recessive chronic granulomatous disease 5
autosomal recessive congenital bilateral absence of vas deferens
autosomal recessive congenital ichthyosis +
autosomal recessive congenital nystagmus
autosomal recessive craniometaphyseal dysplasia
Autosomal Recessive Cutis Laxa +
autosomal recessive cutis laxa type III +
autosomal recessive distal hereditary motor neuronopathy +
Autosomal Recessive Dyskeratosis Congenita +
autosomal recessive Emery-Dreifuss muscular dystrophy 3
autosomal recessive hyaline body myopathy
autosomal recessive hypophosphatemic rickets +
autosomal recessive intellectual developmental disorder +
autosomal recessive isolated ectopia lentis 2
autosomal recessive limb-girdle muscular dystrophy +
autosomal recessive limb-girdle muscular dystrophy type 2P
autosomal recessive nonsyndromic deafness +
autosomal recessive osteopetrosis 1
autosomal recessive osteopetrosis 2
autosomal recessive osteopetrosis 3
autosomal recessive osteopetrosis 4
autosomal recessive osteopetrosis 5
autosomal recessive osteopetrosis 6
autosomal recessive osteopetrosis 7
autosomal recessive osteopetrosis 8
autosomal recessive pericentral pigmentary retinopathy
Autosomal Recessive Peripheral Neuropathy with or without Impaired Intellectual Development
autosomal recessive polycystic kidney disease +
autosomal recessive pseudohypoaldosteronism type 1 +
autosomal recessive pyridoxine-refractory sideroblastic anemia 2
autosomal recessive pyridoxine-refractory sideroblastic anemia 3
autosomal recessive Robinow syndrome
autosomal recessive Robinow syndrome 2
autosomal recessive spinocerebellar ataxia 12
autosomal recessive spondyloepiphyseal dysplasia tarda
autosomal recessive spondyloepiphyseal dysplasia tarda Leroy-Spranger type
autosomal recessive thrombophilia due to protein C deficiency
autosomal recessive thrombophilia due to protein S deficiency
autosomal recessive type IV Ehlers-Danlos syndrome
autosomal recessive Whistling face syndrome
Autosomal Recessive Woolly Hair +
Axenfeld-Rieger Anomaly with Cardiac Defects and Sensorineural Hearing Loss
Axenfeld-Rieger syndrome +
Axenfeld-Rieger syndrome type 1
Axial Mesodermal Dysplasia Spectrum
axial spondylometaphyseal dysplasia
B-Cell Immunodeficiency, Distal Limb Anomalies, and Urogenital Malformations
Bagatelle Cassidy Syndrome
Bainbridge-Ropers syndrome
Bamforth-Lazarus syndrome
Baraitser Rodeck Garner syndrome
Baraitser-Winter syndrome +
Basel-Vanagaite-Smirin-Yosef syndrome
basilar artery insufficiency +
Bazex-Dupre-Christol Syndrome
Bazopoulou Kyrkanidou Syndrome
Beare-Stevenson cutis gyrata syndrome
Beaulieu-Boycott-Innes Syndrome
Beckwith-Wiedemann syndrome +
Beemer Ertbruggen Syndrome
Behrens Baumann Dust Syndrome
Bellini Chiumello Rimoldi Syndrome
Ben Ari Shuper Mimouni Syndrome
benign recurrent intrahepatic cholestasis 1
benign recurrent intrahepatic cholestasis 2
Bent Bone Dysplasia Syndrome +
bent bone dysplasia syndrome 2
Bernard-Soulier syndrome +
beta-ketothiolase deficiency
Beta-Ureidopropionase Deficiency
BH4-deficient hyperphenylalaninemia A
BH4-deficient hyperphenylalaninemia B
BH4-deficient hyperphenylalaninemia C
BH4-deficient hyperphenylalaninemia D
Bhaskar Jagannathan Syndrome
Bifid Femur with Monodactylous Ectrodactyly
Bilateral Amastia with Ureteral Triplication and Dysmorphism
bilateral frontoparietal polymicrogyria
bilateral parasagittal parieto-occipital polymicrogyria
bilateral perisylvian polymicrogyria +
Birk-Landau-Perez Syndrome
Blepharochalasis and Double Lip
blepharocheilodontic syndrome +
Blepharophimosis with Facial and Genital Anomalies and Mental Retardation
blepharophimosis-impaired intellectual development syndrome
Bloch-Sulzberger syndrome +
Blue Rubber Bleb Nevus Syndrome
Bobble-Head Doll Syndrome
Borjeson-Forssman-Lehmann syndrome
Bork Stender Schmidt Syndrome
Bosch-Boonstra-Schaaf optic atrophy syndrome
Boucher-Neuhauser syndrome
Boudhina Yedes Khiari syndrome
Boylan Dew Greco Syndrome
brachial plexus neuritis +
brachycephaly, trichomegaly, and developmental delay
Brachydactyly, Intraventricular Septal Defect, and Deafness
brachydactyly-syndactyly syndrome
Brachymesomelia Renal Syndrome
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome
brachyolmia-amelogenesis imperfecta syndrome
Brachyphalangy, Polydactyly, and Tibial Aplasia/Hypoplasia
Brachytelephalangy Characteristic Facies Kallmann
brain small vessel disease 3
Brain-Lung-Thyroid Syndrome
branched-chain keto acid dehydrogenase kinase deficiency
Branchial Cleft Anomalies
Branchiogenic-Deafness Syndrome
branchiooculofacial syndrome
branchiootorenal syndrome +
Brittle Cornea Syndrome +
brittle cornea syndrome 1
brittle cornea syndrome 2
Broad Terminal Phalanges, Familial
Brown-Vialetto-Van Laere syndrome +
Brown-Vialetto-Van Laere syndrome 1
Brown-Vialetto-Van Laere syndrome 2
Bullous Dystrophy, Hereditary Macular Type
Burnett Schwartz Berberian Syndrome
Buschke-Ollendorff syndrome
Camera Marugo Cohen Syndrome
Camptodactyly Joint Contractures and Facial Skeletal Dysplasia
Camptodactyly Syndrome Guadalajara Type +
Camptodactyly Syndrome Guadalajara Type 2
Camptodactyly Vertebral Fusion
Camptodactyly, Fibrous Tissue Hyperplasia, and Skeletal Dysplasia
camptodactyly-arthropathy-coxa vara-pericarditis syndrome
Camptodactyly-Ichthyosis Syndrome
camptodactyly-tall stature-scoliosis-hearing loss syndrome
Cantalamessa Baldini Ambrosi Syndrome
Cantu Sanchez-Corona Fragoso Syndrome
capillary leak syndrome +
carbamoyl phosphate synthetase I deficiency disease
carboxypeptidase N deficiency
Cardiac, Facial, and Digital Anomalies with Developmental Delay
Cardiac-Urogenital Syndrome
Cardioacrofacial Dysplasia +
Cardiofacioneurodevelopmental Syndrome
Cardiomyopathy Hypogonadism Collagenoma Syndrome
Carnevale Hernandez Castillo Syndrome
Carney-Stratakis syndrome
carnitine-acylcarnitine translocase deficiency
Carpal Synostosis with Dysplastic Elbow Joints and Brachydactyly
Cartilage Hair Hypoplasia Like Syndrome
cartilage-hair hypoplasia
Cartwright Nelson Fryns Syndrome
cataract 11 multiple types +
cataract 13 with adult i phenotype
cataract 16 multiple types
cataract 17 multiple types
cataract 19 multiple types
cataract 22 multiple types
cataract 46 juvenile-onset
cataract 9 multiple types
Cataract Microcornea Syndrome
Cataract, Microcephaly, Arthrogryposis, Kyphosis Syndrome
Cataracts, Ataxia, Short Stature, and Mental Retardation
caudal regression syndrome
Cayler Cardiofacial Syndrome
cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome +
cerebellar atrophy, visual impairment, and psychomotor retardation
CEREBELLAR DYSFUNCTION, IMPAIRED INTELLECTUAL DEVELOPMENT, AND HYPOGONADOTROPIC HYPOGONADISM
cerebellar hyplasia/atrophy, epilepsy, and global developmental delay
Cerebellar Vermis Aplasia with Associated Features suggesting Smith-Lemli-Opitz Syndrome and Meckel Syndrome
Cerebellar, Ocular, Craniofacial, and Genital Syndrome
cerebellofaciodental syndrome
cerebral cavernous malformation 2
cerebral cavernous malformation 3
cerebral creatine deficiency syndrome +
cerebral folate receptor alpha deficiency
Cerebral Visual Impairment and Intellectual Disability
cerebrocostomandibular syndrome
CEREBROFACIAL ARTERIOVENOUS METAMERIC SYNDROME
cerebrooculofacioskeletal syndrome 2
cerebrooculofacioskeletal syndrome 4
Cerebrooculonasal Syndrome
Cervical Ribs, Sprengel Anomaly, Anal Atresia, Urethral Obstruction
Chang Davidson Carlson Syndrome
Charcot-Marie-Tooth disease axonal type 2H
Charcot-Marie-Tooth disease axonal type 2K
Charcot-Marie-Tooth disease axonal type 2P
Charcot-Marie-Tooth disease axonal type 2S
Charcot-Marie-Tooth disease axonal type 2T
Charcot-Marie-Tooth disease axonal type 2X
Charcot-Marie-Tooth disease recessive intermediate A
Charcot-Marie-Tooth disease recessive intermediate B
Charcot-Marie-Tooth disease recessive intermediate C
Charcot-Marie-Tooth disease recessive intermediate D
Charcot-Marie-Tooth disease type 1F
Charcot-Marie-Tooth disease type 2A2B
Charcot-Marie-Tooth disease type 2B1
Charcot-Marie-Tooth disease type 2B2
Charcot-Marie-Tooth disease type 2EE
Charcot-Marie-Tooth disease type 2R
Charcot-Marie-Tooth disease type 3
Charcot-Marie-Tooth disease type 4A
Charcot-Marie-Tooth disease type 4B1
Charcot-Marie-Tooth disease type 4B2
Charcot-Marie-Tooth disease type 4B3
Charcot-Marie-Tooth disease type 4C
Charcot-Marie-Tooth disease type 4D
Charcot-Marie-Tooth disease type 4E
Charcot-Marie-Tooth disease type 4F
Charcot-Marie-Tooth disease type 4G
Charcot-Marie-Tooth disease type 4H
Charcot-Marie-Tooth disease type 4J
Charcot-Marie-Tooth disease type 4K
Chediak-Higashi syndrome +
Chemke Oliver Mallek Syndrome
childhood-onset dystonia with optic atrophy and basal ganglia abnormalities
Chitayat Meunier Hodgkinson Syndrome
Chitayat Moore Del Bigio Syndrome
Chitty Hall Baraitser Syndrome
Chitty Hall Webb Syndrome
chondrodysplasia punctata +
chondrodysplasia with joint dislocations gPAPP type
chondrodysplasia-pseudohermaphroditism syndrome
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
CHOPRA-AMIEL-GORDON SYNDROME
Choroid Plexus Calcification with Mental Retardation
chromosomal deletion syndrome +
chromosomal duplication syndrome +
chromosome 13q14 deletion syndrome
chromosome 15q11.2 deletion syndrome
chromosome 15q13.3 microdeletion syndrome
chromosome 15q24 deletion syndrome
chromosome 15q26-qter deletion syndrome
chromosome 16p11.2 deletion syndrome, 593-kb
chromosome 17p13.1 deletion syndrome
chromosome 17q11.2 deletion syndrome
Chromosome 18 Pericentric Inversion
chromosome 19q13.11 deletion syndrome
chromosome 1q21.1 deletion syndrome
chromosome 1q21.1 duplication syndrome
chromosome 22q11.2 microduplication syndrome
chromosome 2p16.1-p15 deletion syndrome
CHROMOSOME 2p16.3 DELETION SYNDROME
chromosome 2q31.2 deletion syndrome
chromosome 3q29 microdeletion syndrome
Chromosome 4, 4q Terminal Deletion Syndrome
chromosome 5p13 duplication syndrome
Chromosome 6 Ring Syndrome
Chromosome 7 Ring Syndrome
Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-MB
chromosome 8q21.11 deletion syndrome
Chromosome Xp11.3 Deletion Syndrome
Chromosome Xq Duplication Syndrome
Chromosome Xq28 Duplication Syndrome
chronic atrial and intestinal dysrhythmia
Chudley-Mccullough syndrome
Chudley-Rozdilsky Syndrome
Circumvallate Placenta Syndrome
classic dopamine transporter deficiency syndrome
CLEFT LIP AND PALATE-CRANIOFACIAL DYSMORPHISM-CONGENITAL HEART DEFECT-HEARING LOSS SYNDROME
cleft lip-palate-ectodermal dysplasia syndrome
Cleft Palate, Deafness, and Oligodontia
Cleft Palate, Midfacial Hypoplasia, Triangular Facies, and Sensorineural Hearing Loss
Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features
cleft palate-lateral synechia syndrome
cleidocranial dysplasia +
Cleidocranial Dysplasia 2
Cleidorhizomelic Syndrome
Cochlear Deafness with Myopia and Intellectual Impairment
cold-induced sweating syndrome +
Cole-Carpenter syndrome +
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
combined cellular and humoral immune defects with granulomas
combined D-2- and L-2-hydroxyglutaric aciduria
combined deficiency of vitamin K-dependent clotting factors 1
combined deficiency of vitamin K-dependent clotting factors 2
combined malonic and methylmalonic acidemia
Combined Osteogenesis Imperfecta and Ehlers-Danlos Syndrome +
combined oxidative phosphorylation deficiency 1
combined oxidative phosphorylation deficiency 10
combined oxidative phosphorylation deficiency 11
combined oxidative phosphorylation deficiency 12
combined oxidative phosphorylation deficiency 13
combined oxidative phosphorylation deficiency 14
combined oxidative phosphorylation deficiency 15
combined oxidative phosphorylation deficiency 16
combined oxidative phosphorylation deficiency 17
combined oxidative phosphorylation deficiency 18
combined oxidative phosphorylation deficiency 19
combined oxidative phosphorylation deficiency 2
combined oxidative phosphorylation deficiency 20
combined oxidative phosphorylation deficiency 21
combined oxidative phosphorylation deficiency 22
combined oxidative phosphorylation deficiency 23
combined oxidative phosphorylation deficiency 24
combined oxidative phosphorylation deficiency 25
combined oxidative phosphorylation deficiency 26
combined oxidative phosphorylation deficiency 27
combined oxidative phosphorylation deficiency 28
combined oxidative phosphorylation deficiency 29
combined oxidative phosphorylation deficiency 3
combined oxidative phosphorylation deficiency 30
combined oxidative phosphorylation deficiency 31
combined oxidative phosphorylation deficiency 32
combined oxidative phosphorylation deficiency 33
combined oxidative phosphorylation deficiency 34
combined oxidative phosphorylation deficiency 35
combined oxidative phosphorylation deficiency 36
combined oxidative phosphorylation deficiency 37
combined oxidative phosphorylation deficiency 38
combined oxidative phosphorylation deficiency 39
combined oxidative phosphorylation deficiency 4
combined oxidative phosphorylation deficiency 40
combined oxidative phosphorylation deficiency 41
combined oxidative phosphorylation deficiency 42
combined oxidative phosphorylation deficiency 43
combined oxidative phosphorylation deficiency 44
combined oxidative phosphorylation deficiency 45
combined oxidative phosphorylation deficiency 46
combined oxidative phosphorylation deficiency 47
combined oxidative phosphorylation deficiency 48
combined oxidative phosphorylation deficiency 49
combined oxidative phosphorylation deficiency 5
combined oxidative phosphorylation deficiency 50
combined oxidative phosphorylation deficiency 51
combined oxidative phosphorylation deficiency 52
combined oxidative phosphorylation deficiency 53
combined oxidative phosphorylation deficiency 54
combined oxidative phosphorylation deficiency 56
combined oxidative phosphorylation deficiency 57
combined oxidative phosphorylation deficiency 7
combined oxidative phosphorylation deficiency 8
combined oxidative phosphorylation deficiency 9
Combined Pituitary Hormone Deficiency 1
Combined Pituitary Hormone Deficiency 4
common variable immunodeficiency +
Complex Camptosynpolydactyly
complex regional pain syndrome +
Compton-North congenital myopathy
congenital adrenal insufficiency
congenital afibrinogenemia +
congenital amegakaryocytic thrombocytopenia +
congenital amegakaryocytic thrombocytopenia 2
congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay
Congenital Bone Marrow Failure Syndromes +
Congenital Cataract with Mental Impairment and Dentate Gyrus Atrophy
Congenital Cataracts, Facial Dysmorphism, and Neuropathy
congenital central hypoventilation syndrome +
congenital diarrhea 5 with tufting enteropathy
congenital diarrhea 7 with exudative enteropathy
Congenital Dislocation of Hip, with Hyperextensibility of Fingers and Facial Dysmorphism
congenital disorder of deglycosylation 1
congenital disorder of deglycosylation 2
congenital disorder of glycosylation Ia
congenital disorder of glycosylation Iaa
congenital disorder of glycosylation Ib
congenital disorder of glycosylation Ic
congenital disorder of glycosylation Id
congenital disorder of glycosylation Ie
congenital disorder of glycosylation If
congenital disorder of glycosylation Ig
congenital disorder of glycosylation Ih
congenital disorder of glycosylation Ii
congenital disorder of glycosylation Ij
congenital disorder of glycosylation Ik
congenital disorder of glycosylation Il
congenital disorder of glycosylation Im
congenital disorder of glycosylation In
congenital disorder of glycosylation Ip
congenital disorder of glycosylation Iq
congenital disorder of glycosylation Ir
congenital disorder of glycosylation It
congenital disorder of glycosylation Iu
congenital disorder of glycosylation Iw
congenital disorder of glycosylation Ix
congenital disorder of glycosylation type IIa
congenital disorder of glycosylation type IIb
congenital disorder of glycosylation type IIc
congenital disorder of glycosylation type IId
congenital disorder of glycosylation type IIe
congenital disorder of glycosylation type IIf
congenital disorder of glycosylation type IIg
congenital disorder of glycosylation type IIh
congenital disorder of glycosylation type IIi
congenital disorder of glycosylation type IIj
congenital disorder of glycosylation type IIk
congenital disorder of glycosylation type IIl
congenital disorder of glycosylation type IIn
congenital disorder of glycosylation type IIo
congenital disorder of glycosylation type IIp
congenital disorder of glycosylation type IIq
congenital dyserythropoietic anemia type Ia
congenital dyserythropoietic anemia type Ib
congenital dyserythropoietic anemia type II
Congenital Emphysema, with Deafness, Penoscrotal Web, and Mental Retardation
Congenital Erythroderma with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-IgE
congenital fibrosis of the extraocular muscles 2
congenital fibrosis of the extraocular muscles 5
congenital generalized lipodystrophy +
congenital glutamine deficiency
congenital heart defects, dysmorphic facial features, and intellectual developmental disorder
congenital heart defects, hamartomas of tongue, and polysyndactyly
congenital hereditary endothelial dystrophy of cornea
Congenital Hypoplastic Anemia with Multiple Congenital Anomalies/Mental Retardation Syndrome
congenital hypotrichosis with juvenile macular dystrophy
congenital lactase deficiency
congenital leptin deficiency
congenital limbs-face contractures-hypotonia-developmental delay syndrome
congenital malabsorptive diarrhea 4
congenital merosin-deficient muscular dystrophy 1A +
congenital muscular dystrophy 1B
Congenital Muscular Dystrophy associated with Calf Hypertrophy, Microcephaly, and Severe Mental Retardation
congenital muscular dystrophy due to integrin alpha-7 deficiency
Congenital Muscular Dystrophy plus Mental Retardation
congenital muscular dystrophy with cataracts and intellectual disability
congenital muscular dystrophy-dystroglycanopathy type A +
congenital myasthenic syndrome 10
congenital myasthenic syndrome 11
congenital myasthenic syndrome 12
congenital myasthenic syndrome 13
congenital myasthenic syndrome 14
congenital myasthenic syndrome 15
congenital myasthenic syndrome 16
congenital myasthenic syndrome 17
congenital myasthenic syndrome 19
congenital myasthenic syndrome 1B
congenital myasthenic syndrome 20
congenital myasthenic syndrome 21
congenital myasthenic syndrome 22
congenital myasthenic syndrome 2C
congenital myasthenic syndrome 3B
congenital myasthenic syndrome 3C
congenital myasthenic syndrome 4A
congenital myasthenic syndrome 4B
congenital myasthenic syndrome 4C
congenital myasthenic syndrome 5
congenital myasthenic syndrome 6
congenital myasthenic syndrome 8
congenital myasthenic syndrome 9
Congenital Myasthenic Syndrome, with Facial Dysmorphism, associated with Acetylcholine Receptor Deficiency +
congenital nongoitrous hypothyroidism 1
congenital nongoitrous hypothyroidism 4
congenital nongoitrous hypothyroidism 7
Congenital Pain Insensitivity +
congenital secretory chloride diarrhea 1
congenital secretory sodium diarrhea 3
congenital secretory sodium diarrhea 8
congenital stationary night blindness 1B
congenital stationary night blindness 1C
congenital stationary night blindness 1D
congenital stationary night blindness 1E
congenital stationary night blindness 1F
congenital stationary night blindness 1G
congenital stationary night blindness 1H
congenital sucrase-isomaltase deficiency
congenital vertical talus
contractures, pterygia, and spondylocarpotarsal fusion syndrome +
contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B
Corneal Cerebellar Syndrome
corneal dystrophy-perceptive deafness syndrome
Cornelia de Lange syndrome +
Corneodermatoosseous Syndrome
Coronary-Subclavian Steal Syndrome
corpus callosum agenesis-abnormal genitalia syndrome
CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND CEREBELLAR ATAXIA
Cortical Blindness, Retardation, and Postaxial Polydactyly
cortical dysplasia-focal epilepsy syndrome
corticosterone methyloxidase deficiency 1
CORTICOSTERONE METHYLOXIDASE TYPE II DEFICIENCY
cortisone reductase deficiency 1
Costocoracoid Ligament Congenitally Short
Cranioacrofacial Syndrome
craniodiaphyseal dysplasia +
cranioectodermal dysplasia +
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, and Growth and Developmental Retardation
Craniofacial Anomalies and Anterior Segment Dysgenesis Syndrome
Craniofacial Anomalies, Empty Sella Turcica, Corneal Endothelial Changes, and Abnormal Retinal and Auditory Bipolar Cells
craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 1
craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome +
Craniofacial Dyssynostosis
craniofacial-deafness-hand syndrome
Craniofaciofrontodigital Syndrome
Craniofacioskeletal Syndrome
craniofrontonasal syndrome
craniolenticulosutural dysplasia
Craniomicromelic Syndrome
Craniosynostosis Mental Retardation Clefting Syndrome
Craniosynostosis Syndrome, Autosomal Recessive
Craniosynostosis, Adelaide Type
Craniosynostosis-Mental Retardation Syndrome of Lin and Gettig
craniotubular dysplasia Ikegawa type
Cree Mental Retardation Syndrome
crescentic glomerulonephritis
Crigler-Najjar syndrome +
Crouzon syndrome-acanthosis nigricans syndrome
Crumpled Helices and Small Mouth
Cryopyrin-Associated Periodic Syndromes +
Cryptomicrotia Brachydactyly Syndrome
Cubitus Valgus with Impaired Intellectual Development and Unusual Facies
Curatolo Cilio Pessagno Syndrome
Curly Hair-Acral Keratoderma-Caries Syndrome
Curly Hair-Ankyloblepharon-Nail Dysplasia Syndrome
Cutaneous Hemangiomatosis with Associated Features
Cutis Laxa-Marfanoid Syndrome
Cutis Verticis Gyrata and Mental Deficiency
Cyclic Vomiting Syndrome +
Cyprus Facial Neuromusculoskeletal Syndrome
Cystic Fibrosis with Helicobacter Pylori Gastritis, Megaloblastic Anemia, and Subnormal Mentality
cytochrome P450 oxidoreductase deficiency
D-2-hydroxyglutaric aciduria 1
Daentl Towsend Siegel Syndrome
Dahlberg Borer Newcomer Syndrome
Daish Hardman Lamont Syndrome
Daneman Davy Mancer Syndrome
Davenport Donlan Syndrome
De Hauwere Leroy Adriaenssens syndrome
De Sanctis-Cacchione syndrome
DEAFNESS, CATARACT, IMPAIRED INTELLECTUAL DEVELOPMENT, AND POLYNEUROPATHY
Deafness, Congenital Onychodystrophy, Recessive Form
deafness, dystonia, and cerebral hypomyelination
Deafness, Nephritis, Anorectal Malformation
Deafness, with Smith-Magenis Syndrome
Deafness-Craniofacial Syndrome
deafness-dystonia-optic neuronopathy syndrome
Deafness-Hypogonadism Syndrome
deafness-intellectual disability, Martin-Probst type syndrome
Deafness-Oligodontia Syndrome
Deal Barratt Dillon Syndrome
Delayed Cranial Ossification due to CBFB Haploinsufficiency
Dennis Fairhurst Moore Syndrome
Der Kaloustian Mcintosh Silver Syndrome
Dermal Ridges, Nelson Syndrome
developmental and epileptic encephalopathy 101
developmental and epileptic encephalopathy 102
developmental and epileptic encephalopathy 105
developmental and epileptic encephalopathy 106
developmental and epileptic encephalopathy 107
developmental and epileptic encephalopathy 110
developmental and epileptic encephalopathy 12
developmental and epileptic encephalopathy 15
developmental and epileptic encephalopathy 16
developmental and epileptic encephalopathy 18
developmental and epileptic encephalopathy 21
developmental and epileptic encephalopathy 23
developmental and epileptic encephalopathy 25
developmental and epileptic encephalopathy 28
developmental and epileptic encephalopathy 29
developmental and epileptic encephalopathy 3
developmental and epileptic encephalopathy 31B
developmental and epileptic encephalopathy 34
developmental and epileptic encephalopathy 35
developmental and epileptic encephalopathy 37
developmental and epileptic encephalopathy 38
developmental and epileptic encephalopathy 39
developmental and epileptic encephalopathy 40
developmental and epileptic encephalopathy 44
developmental and epileptic encephalopathy 48
developmental and epileptic encephalopathy 49
developmental and epileptic encephalopathy 50
developmental and epileptic encephalopathy 51
developmental and epileptic encephalopathy 52
developmental and epileptic encephalopathy 53
developmental and epileptic encephalopathy 55
developmental and epileptic encephalopathy 60
developmental and epileptic encephalopathy 61
developmental and epileptic encephalopathy 63
developmental and epileptic encephalopathy 68
developmental and epileptic encephalopathy 71
developmental and epileptic encephalopathy 75
developmental and epileptic encephalopathy 76
developmental and epileptic encephalopathy 80
developmental and epileptic encephalopathy 81
developmental and epileptic encephalopathy 82
developmental and epileptic encephalopathy 83
developmental and epileptic encephalopathy 84
developmental and epileptic encephalopathy 86
developmental and epileptic encephalopathy 88
developmental and epileptic encephalopathy 89
developmental and epileptic encephalopathy 9
developmental and epileptic encephalopathy 95
DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES
DEVELOPMENTAL DELAY WITH VARIABLE INTELLECTUAL DISABILITY AND DYSMORPHIC FACIES
Developmental Delay with Variable Intellectual Impairment and Behavioral Abnormalities
developmental delay, hypotrophy, and dysmorphic features without Moebius syndrome
DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES
DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHIC FEATURES
dialysis disequilibrium syndrome
Dianzani Autoimmune Lymphoproliferative Syndrome
Diaphanospondylodysostosis
Diarrhea prodrome + Hemolytic-Uremic Syndrome
dicarboxylic aminoaciduria
diffuse infiltrative lymphocytosis syndrome
dihydropyrimidinase deficiency
dilated cardiomyopathy 1X
dilated cardiomyopathy 2A
dilated cardiomyopathy 2B
dilated cardiomyopathy 2C
dilated cardiomyopathy 2D
dilated cardiomyopathy 2E
dilated cardiomyopathy 2F
dilated cardiomyopathy 2G
dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome
dimethylglycine dehydrogenase deficiency
Dincsoy Salih Patel Syndrome
diphthamide deficiency syndrome +
diphthamide deficiency syndrome 1
Dislocated Elbows, Bowed Tibias, Scoliosis, Deafness, Cataract, Microcephaly, and Mental Retardation
distal arthrogryposis type 1 +
distal arthrogryposis type 3
distal arthrogryposis type 5D
distal arthrogryposis type 6
distal arthrogryposis type 7
Distal Arthrogryposis, with Mental Retardation and Characteristic Facies
distal myopathy with anterior tibial onset
Distal Transverse Limb Defects with Mental Retardation and Spasticity
Distal Trisomy 10q Syndrome
dominant optic atrophy plus syndrome
Drachtman Weinblatt Sitarz Syndrome
Drug Hypersensitivity Syndrome
Duane retraction syndrome +
Duane-radial ray syndrome
Duchenne Muscular Dystrophy, Mental Retardation, and Absence of ERG B-wave
Duker Weiss Siber syndrome
Dwarfism Stiff Joint Ocular Abnormalities
Dwarfism, Low-Birth-Weight Type, with Unresponsiveness to Growth Hormone
Dyggve-Melchior-Clausen disease +
Dykes Markes Harper Syndrome
Dyskinesias, Seizures, and Intellectual Developmental Disorder
Dysmyelination with Jaundice
dysplastic nevus syndrome
dystonia 22, juvenile-onset
dystonia 35, childhood-onset
dystonia 37, early-onset with striatal lesions
early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome
ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES
ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome
Ectodermal Dysplasia, Mental Retardation, Syndactyly
Ectodermal Dysplasia-Skin Fragility Syndrome
ECTODERMAL DYSPLASIA/SHORT STATURE SYNDROME
ectopia lentis with ectopia of pupil
Ectopia Lentis, Spontaneous Filtering Blebs, and Craniofacial Dysmorphism
Ectrodactyly and Ectodermal Dysplasia without Cleft Lip/Palate
Ectrodactyly Cardiopathy Dysmorphism
ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1
ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3
Ectrodactyly-Cleft Palate Syndrome
Edinburgh Malformation Syndrome
Ehlers-Danlos syndrome cardiac valvular type
Ehlers-Danlos syndrome classic-like 1
Ehlers-Danlos syndrome classic-like 2
Ehlers-Danlos syndrome dermatosparaxis type
Ehlers-Danlos syndrome kyphoscoliotic type 1
Ehlers-Danlos syndrome kyphoscoliotic type 2
Ehlers-Danlos syndrome musculocontractural type 1
Ehlers-Danlos syndrome musculocontractural type 2
Ehlers-Danlos syndrome spondylodysplastic type 1
Ehlers-Danlos syndrome spondylodysplastic type 2
electroclinical syndrome +
Elliott Ludman Teebi Syndrome
Ellis Yale Winter Syndrome
Ellis-Van Creveld syndrome +
Encephalopathy due to Defective Mitochondrial and Peroxisomal Fission +
encephalopathy due to defective mitochondrial and peroxisomal fission 1
encephalopathy due to defective mitochondrial and peroxisomal fission 2
Encephalopathy with Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, and Retinal Degeneration
endocrine-cerebro-osteodysplasia syndrome
epidermodysplasia verruciformis +
epidermolysis bullosa simplex with muscular dystrophy
Epithelial Squamous Dysplasia, Keratinizing Desquamative, of Urinary Tract
erythrokeratodermia variabilis et progressiva 1
erythrokeratodermia variabilis et progressiva 4
erythrokeratodermia variabilis et progressiva 5
Extensor Tendons of Fingers, Anomalous Insertion of
Facial Abnormalities, Kyphoscoliosis, and Mental Retardation
Facial Dysmorphism with Multiple Malformations +
Facial Dysmorphism, Cleft Palate, Hearing Loss, and Camptodactyly
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, and Gingival Overgrowth Syndrome
Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature
Facio Thoraco Genital Syndrome
Faciocardiomelic Syndrome
Faciocardiorenal Syndrome
Faciogenital Dysplasia with Attention Deficit-Hyperactivity Disorder
Failed Back Surgery Syndrome
Fallot Complex with Severe Mental and Growth Retardation
familial adenomatous polyposis 2
familial adenomatous polyposis 3
familial adenomatous polyposis 4
familial adult myoclonic epilepsy 5
Familial Antiphospholipid Syndrome
familial apolipoprotein C-II deficiency
familial benign fleck retina
Familial Convulsive Disorder with Prenatal or Early Onset
familial erythrocytosis 2
familial hemophagocytic lymphohistiocytosis 1
familial hemophagocytic lymphohistiocytosis 2
familial hemophagocytic lymphohistiocytosis 3
familial hemophagocytic lymphohistiocytosis 4
Familial Hyperchylomicronemia Syndrome
familial hyperinsulinemic hypoglycemia 1
familial hyperinsulinemic hypoglycemia 2
familial hyperinsulinemic hypoglycemia 4
familial hyperinsulinemic hypoglycemia 8
familial hypertryptophanemia
familial isolated trichomegaly
Familial Lateral Semicircular Canal Malformation, with External and Middle Ear Abnormalities
familial lipase maturation factor 1 deficiency
familial lipoprotein lipase deficiency +
familial partial lipodystrophy type 5
familial partial lipodystrophy type 6
Familial Recurrent Dislocation of Patella
familial renal glucosuria
familial temporal lobe epilepsy 5
Fanconi anemia complementation group A +
Fanconi anemia complementation group C
Fanconi anemia complementation group D1
Fanconi anemia complementation group D2
Fanconi anemia complementation group E
Fanconi anemia complementation group I
Fanconi anemia complementation group L
Fanconi anemia complementation group O
Fanconi anemia complementation group P
Fanconi anemia complementation group Q
Fanconi anemia complementation group S
Fanconi anemia complementation group T
Fanconi anemia complementation group U
Fanconi anemia complementation group V
Fanconi anemia complementation group W
Fanconi renotubular syndrome 2
Fanconi renotubular syndrome 5
Fara Chlupackova Syndrome
fatal infantile hypertonic myofibrillar myopathy
Faye-Petersen Ward Carey Syndrome
Feingold Trainer Syndrome
Feline Acquired Immunodeficiency Syndrome
Female Athlete Triad Syndrome
Femur Fibula Ulna Syndrome
FERGUSON-BONNI NEURODEVELOPMENTAL SYNDROME
fetal akinesia deformation sequence syndrome +
fetal akinesia deformation sequence syndrome 1
fetal akinesia deformation sequence syndrome 2
fetal akinesia deformation sequence syndrome 3
fetal akinesia deformation sequence syndrome 4
fetal encasement syndrome
Fetal Inflammatory Response Syndrome
Fetal Trimethadione Syndrome
fibrogenesis imperfecta ossium
Fibular Aplasia, Tibial Campomelia, and Oligosyndactyly Syndrome
fibular hypoplasia and complex brachydactyly
Fitz-Hugh-Curtis Syndrome
Fitzsimmons Walson Mellor Syndrome
Fitzsimmons-Guilbert Syndrome
Fitzsimmons-McLachlan-Gilbert syndrome
Focal Epilepsy with Speech Disorder and with or without Mental Retardation
focal segmental glomerulosclerosis 6
focal segmental glomerulosclerosis 9
Foix-Chavany-Marie Syndrome
Forney Robinson Pascoe Syndrome
Forsythe-Wakeling Syndrome
Fraser Jequier Chen Syndrome
Freeman-Sheldon syndrome +
Freire-Maia Odontotrichomelic Syndrome
Fried Goldberg Mundel Syndrome
Frints De Smet Fabry Fryns Syndrome
Fronto-Facio-Nasal Dysplasia
Frontootopalatodigital Osteodysplasia
Fryns Hofkens Fabry Syndrome
Fuchs' heterochromic uveitis
Furukawa Takagi Nakao Syndrome
GABRIELE-DE VRIES SYNDROME
galactose epimerase deficiency
Galloway-Mowat syndrome +
Galloway-Mowat syndrome 1
Galloway-Mowat syndrome 3
Galloway-Mowat syndrome 4
Game Friedman Paradice Syndrome
gamma-glutamyl transpeptidase deficiency
Gamstorp-Wohlfart syndrome
Gardner Morrisson Abbot Syndrome
Gaucher's disease type III +
Gay Feinmesser Cohen Syndrome
gelatinous drop-like corneal dystrophy
Generalized Lipodystrophy with Mental Retardation, Deafness, Short Stature, and Slender Bones
Genito Palato Cardiac Syndrome
geroderma osteodysplasticum
Ghosal hematodiaphyseal syndrome
Ghose Sachdev Kumar Syndrome
giant axonal neuropathy 1
Gilles de la Tourette syndrome +
Gingival Fibromatosis with Hypertrichosis and Mental Retardation
GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES
Global Developmental Delay, Lung Cysts, Overgrowth, and Wilms Tumor
glucocorticoid deficiency 1
glucose transporter type 1 deficiency syndrome +
glucose-galactose malabsorption
glutamate formiminotransferase deficiency
glutamate-cysteine ligase deficiency
Glutamyl Ribose-5-Phosphate Storage Disease
glutathione synthetase deficiency of erythrocytes
glutatione synthetase deficiency with 5-oxoprolinuria
glycogen storage disease Ia
glycogen storage disease Ib
glycogen storage disease Ic
glycogen storage disease II +
glycogen storage disease III +
glycogen storage disease IV +
glycogen storage disease IXC
glycogen storage disease V
glycogen storage disease VI
glycogen storage disease VII
glycogen storage disease XV
Goldberg-Shprintzen syndrome
Goldblatt Viljoen Syndrome
Gomez Lopez Hernandez Syndrome
Goniodysgenesis-Mental Retardation-Short Stature Syndrome
Gorlin Bushkell Jensen Syndrome
Gorlin Chaudhry Moss Syndrome
Green Sandford Davison Syndrome
Greig cephalopolysyndactyly syndrome
Groll Hirschowitz Syndrome
Growth and Developmental Retardation, Ocular Ptosis, Cardiac Defect, and Anal Atresia
Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, and Cerebellar Atrophy
growth hormone insensitivity syndrome with immune dysregulation 1
Growth Hormone Insensitivity with Immune Dysregulation +
Growth Mental Deficiency Syndrome of Myhre
Growth Retardation, Developmental Delay, Coarse Facies, and Early Death
GROWTH RETARDATION, INTELLECTUAL DEVELOPMENTAL DISORDER, HYPOTONIA, AND HEPATOPATHY
Growth Retardation, Small and Puffy Hands and Feet, and Eczema
Grubben de Cock Borghgraef Syndrome
Guillain-Barre syndrome +
Gurrieri Sammito Bellussi Syndrome
Hagemoser Weinstein Bresnick Syndrome
Hair Defect with Photosensitivity and Mental Retardation
Halal Setton Wang Syndrome
Hall Riggs Mental Retardation Syndrome
Hallermann-Streiff syndrome +
Hamanishi Ueba Tsuji Syndrome
Hamano Tsukamoto Syndrome
Hand-Arm Vibration Syndrome
hand-foot-genital syndrome
Hantavirus hemorrhagic fever with renal syndrome +
hantavirus pulmonary syndrome
Hapnes Boman Skeie Syndrome
Harrod Doman Keele Syndrome
Hashimoto-Pritzker Syndrome
Haspeslagh Fryns Muelenaere Syndrome
HEART AND BRAIN MALFORMATION SYNDROME
Heart Defects Limb Shortening
HEART DEFECTS, CONGENITAL, AND OTHER CONGENITAL ANOMALIES
Heart-Hand Syndrome, Slovenian Type
hemolytic-uremic syndrome +
Hemorrhagic Shock and Encephalopathy Syndrome
Hengel-Maroofian-Schols syndrome
hepatic venoocclusive disease with immunodeficiency
hereditary alpha tryptasemia syndrome
hereditary angioedema type I
hereditary arterial and articular multiple calcification syndrome +
hereditary folate malabsorption
hereditary fructose intolerance syndrome
Hereditary Neoplastic Syndromes +
hereditary sensory and autonomic neuropathy type 2A
hereditary sensory and autonomic neuropathy type 2B
hereditary sensory and autonomic neuropathy type 5
hereditary sensory and autonomic neuropathy type 6
hereditary sensory and autonomic neuropathy type 8
hereditary sensory neuropathy type 2C
hereditary sensory neuropathy type 4
hereditary spastic paraplegia 11
hereditary spastic paraplegia 14
hereditary spastic paraplegia 15
hereditary spastic paraplegia 18
hereditary spastic paraplegia 23
hereditary spastic paraplegia 24
hereditary spastic paraplegia 25
hereditary spastic paraplegia 26
hereditary spastic paraplegia 27
hereditary spastic paraplegia 28
hereditary spastic paraplegia 32
hereditary spastic paraplegia 35
hereditary spastic paraplegia 39
hereditary spastic paraplegia 43
hereditary spastic paraplegia 44
hereditary spastic paraplegia 45
hereditary spastic paraplegia 46
hereditary spastic paraplegia 47
hereditary spastic paraplegia 48
hereditary spastic paraplegia 49
hereditary spastic paraplegia 50
hereditary spastic paraplegia 51
hereditary spastic paraplegia 52
hereditary spastic paraplegia 53
hereditary spastic paraplegia 54
hereditary spastic paraplegia 55
hereditary spastic paraplegia 56
hereditary spastic paraplegia 57
hereditary spastic paraplegia 59
hereditary spastic paraplegia 5A
hereditary spastic paraplegia 61
hereditary spastic paraplegia 62
hereditary spastic paraplegia 63
hereditary spastic paraplegia 64
hereditary spastic paraplegia 7
hereditary spastic paraplegia 70
hereditary spastic paraplegia 72A
hereditary spastic paraplegia 74
hereditary spastic paraplegia 75
hereditary spastic paraplegia 76
hereditary spastic paraplegia 77
hereditary spastic paraplegia 78
hereditary spastic paraplegia 79B
hereditary spastic paraplegia 81
hereditary spastic paraplegia 82
hereditary spastic paraplegia 83
hereditary spastic paraplegia 84
hereditary spastic paraplegia 85
hereditary spastic paraplegia 86
hereditary spastic paraplegia 87
hereditary spastic paraplegia 89
hereditary spastic paraplegia 90B
hereditary spastic paraplegia 9B
hereditary spherocytosis type 1
hereditary spherocytosis type 3
hereditary spherocytosis type 5
Hernandez Aguirre-Negrete Syndrome
Hernandez Fragoso Syndrome
Hersh Podruch Weisskopf Syndrome
HIATT-NEU-COOPER NEURODEVELOPMENTAL SYNDROME
high molecular weight kininogen deficiency
high myopia-sensorineural deafness syndrome
high pressure neurological syndrome
Hirschsprung Disease with Heart Defects, Laryngeal Anomalies, and Preaxial Polydactyly
histiocytosis-lymphadenopathy plus syndrome
Hittner Hirsch Kreh Syndrome
HIV-Associated Lipodystrophy Syndrome
HMG-CoA synthase 2 deficiency
Ho Kaufman Mcalister Syndrome
Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip/Palate
Holzgreve-Wagner-Rehder syndrome
homocystinuria-megaloblastic anemia cblE type
homocystinuria-megaloblastic anemia cblG type
Hordnes Engebretsen Knudtson syndrome
Hoyeraal Hreidarsson Syndrome
Humeroradial Multiple Synostosis Syndrome
Humeroradial Synostosis with Craniofacial Anomalies
Hunter Carpenter Macdonald Syndrome
Hunter-Macdonald Syndrome
Huntington's Disease-Like Syndrome
hyaline fibromatosis syndrome
hyper IgE recurrent infection syndrome 2
hyper IgE recurrent infection syndrome 3
hyper IgE recurrent infection syndrome 4
hypereosinophilic syndrome +
hyperferritinemia-cataract syndrome
Hyperimmunoglobulin G1(A1) Syndrome
Hyperkeratosis-Hyperpigmentation Syndrome
Hyperleucine-Isoleucinemia
Hyperlysinemia due to Defect in Lysine Transport into Mitochondria
hypermethioninemia due to adenosine kinase deficiency
hyperphosphatasia with impaired intellectual development syndrome +
hyperphosphatemic familial tumoral calcinosis +
hypertelorism, microtia, facial clefting syndrome
hypertension and brachydactyly syndrome
hypervalinemia and hyperleucine-isoleucinemia
Hypogonadism with Low-Grade Mental Deficiency and Microcephaly
hypogonadotropic hypogonadism 10 with or without anosmia
hypogonadotropic hypogonadism 11 with or without anosmia
hypogonadotropic hypogonadism 12 with or without anosmia
hypogonadotropic hypogonadism 13 with or without anosmia
hypogonadotropic hypogonadism 18 with or without anosmia
hypogonadotropic hypogonadism 22 with or without anosmia
hypogonadotropic hypogonadism 23 with or without anosmia
hypogonadotropic hypogonadism 24 without anosmia
hypogonadotropic hypogonadism 7 with or without anosmia
hypogonadotropic hypogonadism 8 with or without anosmia
Hypohidrotic Ectodermal Dysplasia, with Hypothyroidism and Agenesis of the Corpus Callosum
HYPOMAGNESEMIA, SEIZURES, AND INTELLECTUAL DISABILITY +
Hypomelia Mullerian Duct Anomalies
hypomyelinating leukodystrophy 10
hypomyelinating leukodystrophy 11
hypomyelinating leukodystrophy 12
hypomyelinating leukodystrophy 13
hypomyelinating leukodystrophy 14
hypomyelinating leukodystrophy 15
hypomyelinating leukodystrophy 17
hypomyelinating leukodystrophy 18
hypomyelinating leukodystrophy 2
hypomyelinating leukodystrophy 20
hypomyelinating leukodystrophy 21
hypomyelinating leukodystrophy 23
hypomyelinating leukodystrophy 26
hypomyelinating leukodystrophy 3
hypomyelinating leukodystrophy 4
hypomyelinating leukodystrophy 5
hypomyelinating leukodystrophy 7
hypomyelinating leukodystrophy 8
hypomyelinating leukodystrophy 9
hypoparathyroidism-retardation-dysmorphism syndrome
hypoplastic left heart syndrome +
hypoplastic or aplastic tibia with polydactyly
Hypospadias-Mental Retardation Syndrome
hypotonia, ataxia, and delayed development syndrome
HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME
HYPOTONIA, HYPERVENTILATION, IMPAIRED INTELLECTUAL DEVELOPMENT, DYSAUTONOMIA, EPILEPSY, AND EYE ABNORMALITIES
hypotonia-cystinuria syndrome
hypotrichosis-lymphedema-telangiectasia syndrome +
hypotrichosis-lymphedema-telangiectasia-renal defect syndrome
Hypotrichosis-Osteolysis-Periodontitis-Palmoplantar Keratoderma Syndrome
Ichthyosis and Male Hypogonadism
Ichthyosis Cheek Eyebrow Syndrome
Ichthyosis Prematurity Syndrome
ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis
Ichthyosis, Mental Retardation, Dwarfism, and Renal Impairment
Ichthyosis, Spastic Quadriplegia, and Mental Retardation
Ichthyosis-Mental Retardation Syndrome with Large Keratohyalin Granules in the Skin
ICHTHYOTIC KERATODERMA, SPASTICITY, HYPOMYELINATION, AND DYSMORPHIC FACIAL FEATURES
immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
Immune Reconstitution Inflammatory Syndrome
immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia
immunodeficiency with hyper IgM type 3
immunodeficiency with hyper IgM type 5
immunodeficiency with hyper-IgM type 2
immunodeficiency-centromeric instability-facial anomalies syndrome +
immunoglobulin alpha deficiency +
Impaired intellectual development, anterior maxillary protrusion, and strabismus
inappropriate ADH syndrome +
inclusion body myopathy with Paget disease of bone and frontotemporal dementia +
Incomplete Sertoli Cell-Only Syndrome
Indolylacroyl Glycinuria with Mental Retardation
infancy electroclinical syndrome +
Infantile Cataract, Skin Abnormalities, Glutamate Excess, and Impaired Intellectual Development
infantile cerebellar-retinal degeneration
infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
Infantile Hyperuricemia with Abnormal Behavior and Normal Hypoxanthine Guanine Phosphoribosyltransferase
Infantile Hypotonia with Psychomotor Retardation +
infantile liver failure syndrome +
infantile liver failure syndrome 1
Infantile Multisystem Neurologic Disease with Osseous Fragility
infantile parkinsonism-dystonia 2
inflammatory bowel disease 25
inflammatory bowel disease 28
inflammatory poikiloderma with hair abnormalities and acral keratoses
INTELLECTUAL DEVELOPMENTAL DISORDER AND RETINITIS PIGMENTOSA
Intellectual Developmental Disorder with Autism and Dysmorphic Facies
Intellectual Developmental Disorder with Autism and Macrocephaly
Intellectual Developmental Disorder with Autism and Speech Delay
intellectual developmental disorder with cardiac arrhythmia
Intellectual Developmental Disorder with Cardiac Defects and Dysmorphic Facies
INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES
Intellectual Developmental Disorder with Dysmorphic Facies and Ptosis
Intellectual Developmental Disorder with Dysmorphic Facies, Seizures, and Distal Limb Anomalies
INTELLECTUAL DEVELOPMENTAL DISORDER WITH GASTROINTESTINAL DIFFICULTIES AND HIGH PAIN THRESHOLD
INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPERTELORISM AND DISTINCTIVE FACIES
INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES
INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES
INTELLECTUAL DEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND EARLY-ONSET DOPA-RESPONSIVE DYSTONIA-PARKINSONISM
Intellectual Developmental Disorder with Macrocephaly, Seizures, and Speech Delay
INTELLECTUAL DEVELOPMENTAL DISORDER WITH MUSCLE TONE ABNORMALITIES AND DISTAL SKELETAL DEFECTS
Intellectual Developmental Disorder with Nasal Speech, Dysmorphic Facies, and Variable Skeletal Anomalies
INTELLECTUAL DEVELOPMENTAL DISORDER WITH NEUROPSYCHIATRIC FEATURES
INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT EPILEPSY OR CEREBELLAR ATAXIA
INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT PERIPHERAL NEUROPATHY
INTELLECTUAL DEVELOPMENTAL DISORDER WITH PERSISTENCE OF FETAL HEMOGLOBIN
INTELLECTUAL DEVELOPMENTAL DISORDER WITH POOR GROWTH AND WITH OR WITHOUT SEIZURES OR ATAXIA
Intellectual Developmental Disorder with Seizures and Language Delay
INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEVERE SPEECH AND AMBULATION DEFECTS
intellectual developmental disorder with short stature and behavioral abnormalities
INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE, FACIAL ANOMALIES, AND SPEECH DEFECTS
Intellectual Developmental Disorder with Speech Delay and Axonal Peripheral Neuropathy
Intellectual Developmental Disorder with Speech Delay, Autism, and Dysmorphic Facies
INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES
Intellectual Developmental Disorder, Autosomal Dominant, FRA12A Type
INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES
intellectual disability and myopathy syndrome
Intellectual Disability with Episodic Ataxia and Congenital Arthrogryposis
intermediate spinal muscular atrophy
interstitial lung disease 1
Iridocorneal Endothelial Syndrome +
iridogoniodysgenesis syndrome +
Iris Dysplasia Hypertelorism Deafness
Islet Cell Tumor Syndrome
Isodicentric Chromosome 15 Syndrome
isolated hyperchlorhidrosis
isolated microphthalmia 1
isolated microphthalmia 2
isolated microphthalmia 3
isolated microphthalmia 5
isolated microphthalmia 6
isolated microphthalmia 8
Isolated Noncompaction of the Ventricular Myocardium +
isolated sulfite oxidase deficiency
Isotretinoin Embryopathy Like Syndrome
Jagell Holmgren Hofer Syndrome
Jequier Kozlowski Skeletal Dysplasia
Johanson-Blizzard syndrome
Johnston-Aarons-Schelley Syndrome
JOINT LAXITY, SHORT STATURE, AND MYOPIA
Jones Hersh Yusk Syndrome
Judge Misch Wright Syndrome
Junctional Epidermolysis Bullosa 2C, Laryngoonychocutaneous
junctional epidermolysis bullosa Herlitz type +
junctional epidermolysis bullosa non-Herlitz type +
junctional epidermolysis bullosa with pyloric atresia
Jung Wolff Back Stahl Syndrome
Kahn-Kahn-Katsanis Syndrome
Kaler Garrity Stern Syndrome
Kantaputra Gorlin Syndrome
Kaplan Plauchu Fitch Syndrome
Kaplowitz Bodurtha syndrome
Karandikar Maria Kamble Syndrome
karyomegalic interstitial nephritis
Kasabach-Merritt Syndrome +
Kashani Strom Utley Syndrome
Kasznica Carlson Coppedge Syndrome
Katsantoni Papadakou Lagoyanni Syndrome
Kaufman oculocerebrofacial syndrome
Kennerknecht Sorgo Oberhoffer Syndrome
Kenny-Caffey syndrome type 1
Keratitis-Ichthyosis-Deafness Syndrome +
Keratoconus Posticus Circumscriptus with Associated Malformations
keratosis pilaris atrophicans +
Kleeblattschaedel Syndrome
Klippel-Trenaunay syndrome
Kocher-Debre-Semelaigne Syndrome
Kohlschutter-Tonz syndrome
KOHLSCHUTTER-TONZ SYNDROME-LIKE
Konigsmark Knox Hussels Syndrome
Koone Rizzo Elias Syndrome
Kosaki Overgrowth Syndrome
Kousseff Nichols Syndrome
Kozlowski Brown Hardwick Syndrome
Kozlowski Ouvrier Syndrome
Kozlowski Rafinski Klicharska Syndrome
Kozlowski Tsuruta Taki Syndrome
Kozlowski Warren Fisher Syndrome
Kozlowski-Krajewska Syndrome
Krauss Herman Holmes Syndrome
Kuster Majewski Hammerstein Syndrome
Kuzniecky Andermann Syndrome
Lachiewicz Sibley Syndrome
Laplane Fontaine Lagardere Syndrome
Larsen-like syndrome B3GAT3 type
late-adult onset retinitis pigmentosa
Late-Onset Localized Junctional Epidermolysis Bullosa with Mental Retardation
lateral medullary syndrome +
lateral meningocele syndrome
Laurence Prosser Rocker Syndrome
Le Marec Bracq Picaud Syndrome
Leber congenital amaurosis 1
Leber congenital amaurosis 12
Leber congenital amaurosis 13
Leber congenital amaurosis 14
Leber congenital amaurosis 15
Leber congenital amaurosis 16
Leber congenital amaurosis 17
Leber congenital amaurosis 2
Leber congenital amaurosis 4
Leber congenital amaurosis 5
Leber congenital amaurosis 6
Leber congenital amaurosis 8
Leber congenital amaurosis 9
Leichtman Wood Rohn Syndrome
Lenz-Majewski hyperostotic dwarfism
lethal congenital contracture syndrome +
Lethal Congenital Nonspherocytic Hemolytic Anemia with Genital and Other Abnormalities
LETM1-ASSOCIATED CLINICAL SPECTRUM WITH PREDOMINANT NERVOUS SYSTEM INVOLVEMENT
leukocyte adhesion deficiency +
leukoencephalopathy with vanishing white matter +
Leukoencephalopathy, Arthritis, Colitis, and Hypogammaglobulinemia
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis
LI-GHORBANI-WEISZ-HUBSHMAN SYNDROME
linear nevus sebaceous syndrome +
linear skin defects with multiple congenital anomalies 2
lissencephaly 7 with cerebellar hypoplasia
LONG-OLSEN-DISTELMAIER SYNDROME
loose anagen hair syndrome +
Lopes-Maciel-Rodan Syndrome
Lubani Al Saleh Teebi Syndrome
Lung Damage, Immunodeficiency and Chromosome Breakage Syndrome
Lutz Richner Landolt Syndrome
Lymphedema, Cardiac Septal Defects, and Characteristic Facies
lymphedema-distichiasis syndrome +
lymphoproliferative syndrome 1
lymphoproliferative syndrome 2
Lynch Lee Murday syndrome
lysosomal acid lipase deficiency +
Maccario Mena Weir Syndrome
MacDermot Winter Syndrome
MacKay Shek Carr Syndrome
MACROCEPHALY, ACQUIRED, WITH IMPAIRED INTELLECTUAL DEVELOPMENT
macrocephaly-autism syndrome
Macrophage Activation Syndrome
Macrosomia Obesity Macrocephaly Ocular Abnormalities
Macrosomia with Lethal Microphthalmia
Malabsorption Syndromes +
Male Hypogonadism with Mental Retardation and Skeletal Anomalies
Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type
Malignant Carcinoid Syndrome +
Mammary-Digital-Nail Syndrome
Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome
Mandibuloacral Dysplasia Progeroid Syndrome
mandibuloacral dysplasia type B lipodystrophy
Mandibulofacial Dysostosis Syndrome, Bauru Type
mandibulofacial dysostosis with alopecia
Mandibulofacial Dysostosis with Macroblepharon and Macrostomia
Mandibulofacial Dysostosis with Mental Deficiency
mandibulofacial dysostosis, Guion-Almeida type
Marfanoid Hypermobility Syndrome
Marfanoid Mental Retardation Syndrome, Autosomal
Marinesco-Sjogren syndrome
Marles Greenberg Persaud Syndrome
Maroteaux Fonfria Syndrome
Martinez Monasterio Pinheiro Syndrome
Massa Casaer Ceulemans Syndrome
Maternally Inherited Leigh Syndrome
Maxillofacial Abnormalities +
Mayer-Rokitansky-Kuster-Hauser syndrome +
McKusick-Kaufman syndrome
McPherson Clemens Syndrome
McPherson Robertson Cammarano Syndrome
Meacham Winn Culler Syndrome
Meckel-Like Cerebrorenodigital Syndrome
meconium aspiration syndrome
Medial Medullary Syndrome
Medial Tibial Stress Syndrome
median arcuate ligament syndrome
megaconial type congenital muscular dystrophy
megacystis-microcolon-intestinal hypoperistalsis syndrome +
megalencephalic leukoencephalopathy with subcortical cysts 1
megalencephalic leukoencephalopathy with subcortical cysts 2A
megalencephalic leukoencephalopathy with subcortical cysts 2B
Megalencephaly - Cutis Marmorata Telangiectatica Congenita
Megalencephaly with Thick Corpus Callosum, Cerebellar Atrophy, and Intellectual Disability
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome +
Mehta Lewis Patton Syndrome
melanoma and neural system tumor syndrome
Melanoma-Pancreatic Cancer Syndrome
Melkersson-Rosenthal syndrome
Mengel Konigsmark Syndrome
Menke-Hennekam Syndrome +
Mental and Growth Retardation with Amblyopia
Mental Retardation and Distinctive Facial Features with or without Cardiac Defects
Mental Retardation Associated with Psoriasis
Mental Retardation Mietens Weber Type
Mental Retardation Smith Fineman Myers Type
Mental Retardation Spasticity Ectrodactyly
Mental Retardation Syndrome, Belgian Type
Mental Retardation with Optic Atrophy, Facial Dysmorphism, Microcephaly, and Short Stature
Mental Retardation with Spastic Paraplegia
Mental Retardation Wolff Type
Mental Retardation, Buenos Aires Type
Mental Retardation, Joint Hypermobility, and Skin Laxity, with or without Metabolic Abnormalities
Mental Retardation, Keratoconus, Febrile Seizures, and Sinoatrial Block
Mental Retardation, Macrocephaly, Short Stature and Craniofacial Dysmorphism
Mental Retardation, Microcephaly, Epilepsy, and Coarse Face
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, and Facial Dysmorphism
Mental Retardation, Skeletal Dysplasia, and Abducens Palsy
Merlob Grunebaum Reisner Syndrome
Mesomelia-Synostoses Syndrome
Mesomelic Limb Shortening and Bowing
Metaphyseal Acroscyphodysplasia
Metaphyseal Dysostosis, Mental Retardation, and Conductive Deafness
methemoglobinemia and ambiguous genitalia
Methionine Malabsorption Syndrome
Meyenburg-Altherr-Uehlinger Syndrome
microcephalic osteodysplastic primordial dwarfism type I
microcephalic osteodysplastic primordial dwarfism type II
Microcephalic Primordial Dwarfism Toriello Type
Microcephaly Albinism Digital Anomalies Syndrome
Microcephaly and Chorioretinopathy +
microcephaly and chorioretinopathy 1
microcephaly and chorioretinopathy 2
microcephaly and chorioretinopathy 3
Microcephaly Deafness Syndrome
Microcephaly Seizures Mental Retardation Heart Disorders
Microcephaly Sparse Hair Mental Retardation Seizures
Microcephaly with Cervical Spine Fusion Anomalies
Microcephaly with Mental Retardation and Digital Anomalies
microcephaly with or without chorioretinopathy, lymphedema, or mental retardation
Microcephaly, Corpus Callosum Dysgenesis and Cleft Lip-Palate
Microcephaly, Epilepsy, and Diabetes Syndrome +
Microcephaly, Facial Abnormalities, Micromelia, and Mental Retardation
Microcephaly, Facial Dysmorphism, Renal Agenesis, and Ambiguous Genitalia Syndrome
microcephaly, growth deficiency, seizures, and brain malformations
Microcephaly, Growth Restriction, and Increased Sister Chromatid Exchange +
Microcephaly, Growth Retardation, Cataract, Hearing Loss, and Unusual Appearance
Microcephaly, Macrotia, and Mental Retardation
microcephaly, seizures, and developmental delay
microcephaly, short stature, and limb abnormalities
Microcephaly-Capillary Malformation Syndrome
microcephaly-micromelia syndrome
Microdontia Hypodontia Short Stature
Microphthalmia and Mental Deficiency
Microphthalmia with Cyst, Bilateral Facial Clefts, and Limb Anomalies
microphthalmia with limb anomalies
Microspherophakia with Hernia
microvillus inclusion disease +
Microvillus Inclusion Disease 2
midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis
Midface Hypoplasia, Obesity, Developmental Delay, and Neonatal Hypotonia
Miles-Carpenter syndrome +
Milner Khallouf Gibson Syndrome
Mirhosseini-Holmes-Walton Syndrome
mismatch repair cancer syndrome +
mitochondrial complex IV deficiency nuclear type 1
mitochondrial complex IV deficiency nuclear type 10
mitochondrial complex IV deficiency nuclear type 11
mitochondrial complex IV deficiency nuclear type 12
mitochondrial complex IV deficiency nuclear type 13
mitochondrial complex IV deficiency nuclear type 14
mitochondrial complex IV deficiency nuclear type 15
mitochondrial complex IV deficiency nuclear type 16
mitochondrial complex IV deficiency nuclear type 17
mitochondrial complex IV deficiency nuclear type 18
mitochondrial complex IV deficiency nuclear type 19
mitochondrial complex IV deficiency nuclear type 2
mitochondrial complex IV deficiency nuclear type 20
mitochondrial complex IV deficiency nuclear type 21
mitochondrial complex IV deficiency nuclear type 22
mitochondrial complex IV deficiency nuclear type 23
mitochondrial complex IV deficiency nuclear type 3
mitochondrial complex IV deficiency nuclear type 4
mitochondrial complex IV deficiency nuclear type 6
mitochondrial complex IV deficiency nuclear type 7
mitochondrial complex IV deficiency nuclear type 8
mitochondrial complex IV deficiency nuclear type 9
mitochondrial complex V (ATP synthase) deficiency nuclear type 4B
mitochondrial complex V (ATP synthase) deficiency nuclear type 5
mitochondrial complex V (ATP synthase) deficiency nuclear type 7
mitochondrial DNA depletion syndrome 1
mitochondrial DNA depletion syndrome 11
mitochondrial DNA depletion syndrome 12b
mitochondrial DNA depletion syndrome 13
mitochondrial DNA depletion syndrome 15
mitochondrial DNA depletion syndrome 16
mitochondrial DNA depletion syndrome 16B
mitochondrial DNA depletion syndrome 17
mitochondrial DNA depletion syndrome 18
mitochondrial DNA depletion syndrome 19
mitochondrial DNA depletion syndrome 2
mitochondrial DNA depletion syndrome 20
mitochondrial DNA depletion syndrome 3
mitochondrial DNA depletion syndrome 4B
mitochondrial DNA depletion syndrome 5
mitochondrial DNA depletion syndrome 6
mitochondrial DNA depletion syndrome 8A
mitochondrial DNA depletion syndrome 8b
mitochondrial DNA depletion syndrome 9
Mitochondrial DNA Depletion Syndrome, Hepatocerebral Form, Autosomal Recessive +
mitochondrial pyruvate carrier deficiency
mitochondrial short-chain enoyl-CoA hydratase 1 deficiency
mitochondrial trifunctional protein deficiency +
mixed connective tissue disease
Miyoshi muscular dystrophy 1
Miyoshi muscular dystrophy 3
Mollica-Pavone-Antener Syndrome
Mononen-Karnes-Senac syndrome
Monophalangy of Great Toe
Morillo-Cucci Passarge Syndrome
mosaic variegated aneuploidy syndrome +
mosaic variegated aneuploidy syndrome 1
mosaic variegated aneuploidy syndrome 2
mosaic variegated aneuploidy syndrome 3
mosaic variegated aneuploidy syndrome 4
Mousa Al din Al Nassar Syndrome
Moyamoya Disease 4 with Short Stature, Hypergonadotropic Hypogonadism, and Facial Dysmorphism
mucolipidosis II alpha/beta
mucolipidosis III alpha/beta +
mucopolysaccharidosis Ih/s
mucopolysaccharidosis IVA
mucopolysaccharidosis type IIIA
mucopolysaccharidosis type IIIB
mucopolysaccharidosis type IIIC
mucopolysaccharidosis type IIID
mucopolysaccharidosis type IVB
Mucopolysaccharidosis-Plus Syndrome
Mulchandani-Bhoj-Conlin syndrome
Mullegama-Klein-Martinez syndrome
Muller Barth Menger Syndrome
multicentric carpotarsal osteolysis syndrome
multicentric reticulohistiocytosis
multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia and hydranencephaly
multiple benign circumferential skin creases on limbs +
multiple chemical sensitivity
Multiple Congenital Anomalies Syndrome with Cloverleaf Skull
multiple congenital anomalies-hypotonia-seizures syndrome +
multiple congenital anomalies-hypotonia-seizures syndrome 1
multiple congenital anomalies-hypotonia-seizures syndrome 3
multiple congenital anomalies-hypotonia-seizures syndrome 4
MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED
Multiple Congenital Anomalies/Dysmorphic Syndrome-Intellectual Disability
multiple epiphyseal dysplasia 4
multiple epiphyseal dysplasia 7
multiple epiphyseal dysplasia with myopia and deafness
multiple intestinal atresia
multiple mitochondrial dysfunctions syndrome +
multiple mitochondrial dysfunctions syndrome 1
multiple mitochondrial dysfunctions syndrome 2
multiple mitochondrial dysfunctions syndrome 3
multiple mitochondrial dysfunctions syndrome 4
multiple mitochondrial dysfunctions syndrome 5
multiple mitochondrial dysfunctions syndrome 6
multiple synostoses syndrome +
multiple system atrophy +
Multisystem Autoimmune Disease with Facial Dysmorphism
Multisystemic Smooth Muscle Dysfunction Syndrome
Murine Acquired Immunodeficiency Syndrome
muscular dystrophy-dystroglycanopathy type B1
muscular dystrophy-dystroglycanopathy type B14
muscular dystrophy-dystroglycanopathy type B15
muscular dystrophy-dystroglycanopathy type B2
muscular dystrophy-dystroglycanopathy type B3
muscular dystrophy-dystroglycanopathy type B4
muscular dystrophy-dystroglycanopathy type B5
muscular dystrophy-dystroglycanopathy type B6
Myelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, and Psychomotor Delay
myelodysplastic syndrome +
myeloid leukemia associated with Down Syndrome
Myoectodermal Gonadal Dysgenesis Syndrome
myofascial pain syndrome +
myopathy with extrapyramidal signs
Myopathy, Cataract, Hypogonadism Syndrome
Myotonia with Skeletal Abnormalities and Mental Retardation
N-acetylglutamate synthase deficiency
Nablus Mask-Like Facial Syndrome
Nagashima-type palmoplantar keratosis
Naguib-Richieri-Costa Syndrome
Nasopalpebral Lipoma Coloboma Syndrome
Nasopharyngeal Teratoma with Dandy Walker Diaphragmatic Hernia
neonatal abstinence syndrome
neonatal diabetes mellitus with congenital hypothyroidism
neonatal lethal pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome
neonatal-onset type II citrullinemia
nephrogenic diabetes insipidus type 2
Nephrogenic Diabetes Insipidus with Mental Retardation and Intracerebral Calcification
nephrotic syndrome type 1
nephrotic syndrome type 10
nephrotic syndrome type 11
nephrotic syndrome type 12
nephrotic syndrome type 13
nephrotic syndrome type 14
nephrotic syndrome type 15
nephrotic syndrome type 16
nephrotic syndrome type 17
nephrotic syndrome type 18
nephrotic syndrome type 19
nephrotic syndrome type 2
nephrotic syndrome type 21
nephrotic syndrome type 22
nephrotic syndrome type 23
nephrotic syndrome type 3
nephrotic syndrome type 5
nephrotic syndrome type 6
nephrotic syndrome type 7
nephrotic syndrome type 8
nephrotic syndrome type 9
nerve compression syndrome +
Nestor-Guillermo progeria syndrome
Neuhauser Daly Magnelli Syndrome
Neuhauser Eichner Opitz Syndrome
NEUROCARDIOFACIODIGITAL SYNDROME
Neurocutaneous Syndromes +
neurodegeneration with brain iron accumulation 2A
neurodegeneration with brain iron accumulation 2B
neurodegeneration with brain iron accumulation 4
neurodegeneration with brain iron accumulation 6
NEURODEGENERATION, CHILDHOOD-ONSET, WITH MULTISYSTEM INVOLVEMENT DUE TO MITOCHONDRIAL DYSFUNCTION
NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY
NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES AND WITH OR WITHOUT VERTEBRAL OR CARDIAC ANOMALIES
neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities
neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies
NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM
Neurodevelopmental Disorder with Craniofacial Dysmorphism and Skeletal Defects
neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities
neurodevelopmental disorder with hypotonia and speech delay
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES
Neurodevelopmental Disorder with Impaired Intellectual Development, Hypotonia, and Ataxia
NEURODEVELOPMENTAL DISORDER WITH LANGUAGE DELAY AND BEHAVIORAL ABNORMALITIES, WITH OR WITHOUT SEIZURES
neurodevelopmental disorder with midbrain and hindbrain malformations
Neurodevelopmental Disorder with Poor Language and Loss of Hand Skills
NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES
Neurofaciodigitorenal Syndrome
neuronal ceroid lipofuscinosis 1
neuronal ceroid lipofuscinosis 10
neuronal ceroid lipofuscinosis 11
neuronal ceroid lipofuscinosis 13
neuronal ceroid lipofuscinosis 2
neuronal ceroid lipofuscinosis 3
neuronal ceroid lipofuscinosis 5
neuronal ceroid lipofuscinosis 6A
neuronal ceroid lipofuscinosis 6B
neuronal ceroid lipofuscinosis 7
neuronal ceroid lipofuscinosis 8
neuronal ceroid lipofuscinosis 8 northern epilepsy variant
neuronal ceroid lipofuscinosis 9
neurooculocardiogenitourinary syndrome
Neutropenic Enterocolitis
nevoid basal cell carcinoma syndrome +
NF1 Microduplication Syndrome
Nicolaides-Baraitser syndrome
Nijmegen breakage syndrome +
Noble Bass Sherman Syndrome
Non Ketotic Hyperglycinemia Syndrome
non-syndromic intellectual disability +
Noneruption of Teeth with Maxillary Hypoplasia and Genu Valgum
Nonimmune Hydrops Fetalis, with Gracile Bones and Dysmorphic Features
Nonkeratan-Sulfate-Excreting Morquio Syndrome
nonphotosensitive trichothiodystrophy +
nonphotosensitive trichothiodystrophy 4
nonphotosensitive trichothiodystrophy 6
nonphotosensitive trichothiodystrophy 7
nonprogressive cerebellar ataxia with mental retardation
nonsyndromic congenital nail disorder 3
nonsyndromic congenital nail disorder 4
nonsyndromic congenital nail disorder 9
Noonan syndrome with multiple lentigines +
nuclear type mitochondrial complex I deficiency 1
nuclear type mitochondrial complex I deficiency 10
nuclear type mitochondrial complex I deficiency 11
nuclear type mitochondrial complex I deficiency 13
nuclear type mitochondrial complex I deficiency 14
nuclear type mitochondrial complex I deficiency 15
nuclear type mitochondrial complex I deficiency 16
nuclear type mitochondrial complex I deficiency 17
nuclear type mitochondrial complex I deficiency 18
nuclear type mitochondrial complex I deficiency 19
nuclear type mitochondrial complex I deficiency 2
nuclear type mitochondrial complex I deficiency 20
nuclear type mitochondrial complex I deficiency 21
nuclear type mitochondrial complex I deficiency 22
nuclear type mitochondrial complex I deficiency 23
nuclear type mitochondrial complex I deficiency 24
nuclear type mitochondrial complex I deficiency 25
nuclear type mitochondrial complex I deficiency 26
nuclear type mitochondrial complex I deficiency 27
nuclear type mitochondrial complex I deficiency 28
nuclear type mitochondrial complex I deficiency 29
nuclear type mitochondrial complex I deficiency 3
nuclear type mitochondrial complex I deficiency 31
nuclear type mitochondrial complex I deficiency 32
nuclear type mitochondrial complex I deficiency 33
nuclear type mitochondrial complex I deficiency 34
nuclear type mitochondrial complex I deficiency 35
nuclear type mitochondrial complex I deficiency 4
nuclear type mitochondrial complex I deficiency 5
nuclear type mitochondrial complex I deficiency 6
nuclear type mitochondrial complex I deficiency 7
nuclear type mitochondrial complex I deficiency 8
nuclear type mitochondrial complex I deficiency 9
O'Donnell-Luria-Rodan Syndrome
Obesity Hypoventilation Syndrome
Occipital Cortical Malformations
Oculoauriculofrontonasal Syndrome
Oculocerebral Hypopigmentation Syndrome Type Preus
Oculocerebrocutaneous Syndrome
oculocerebrorenal syndrome +
oculocutaneous albinism +
Oculodental Syndrome Rutherfurd Syndrome
oculodentodigital dysplasia +
Oculootofacial Dysplasia +
Oculopalatocerebral Syndrome
Oculorenocerebellar Syndrome
Odontoma Dysphagia Syndrome
Odontotrichoungual-Digital-Palmar Syndrome
Ohdo syndrome, SBBYS variant
Okur-Chung Neurodevelopmental Syndrome
Oligodontia-Colorectal Cancer Syndrome
Oliver-McFarlane syndrome
ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME
Onychotrichodysplasia and Neutropenia
Opitz Reynolds Fitzgerald syndrome
Opsoclonus-Myoclonus Syndrome +
Optic Atrophy Spastic Paraplegia Syndrome
optic disc anomalies with retinal and/or macular dystrophy
Orbital Margin, Hypoplasia of
ornithine translocase deficiency
Oroacral Syndrome, Verloes-Koulischer Type
orofaciodigital syndrome +
orofaciodigital syndrome II
orofaciodigital syndrome III
orofaciodigital syndrome IV
orofaciodigital syndrome IX
orofaciodigital syndrome V
orofaciodigital syndrome XIV
orofaciodigital syndrome XIX
orofaciodigital syndrome XVI
orofaciodigital syndrome XVII
orofaciodigital syndrome XVIII
orofaciodigital syndrome XX
Osebold Skeletal Dysplasia Osteolysis Syndrome
osteogenesis imperfecta type 10
osteogenesis imperfecta type 11
osteogenesis imperfecta type 12
osteogenesis imperfecta type 13
osteogenesis imperfecta type 15
osteogenesis imperfecta type 17
osteogenesis imperfecta type 18
osteogenesis imperfecta type 20
osteogenesis imperfecta type 21
osteogenesis imperfecta type 7
osteogenesis imperfecta type 8
osteogenesis imperfecta type 9
Osteolysis Syndrome, Recessive
Osteootohepatoenteric Syndrome
Osteopenic Nonfracture Syndrome
osteoporosis-pseudoglioma syndrome
osteosclerotic metaphyseal dysplasia
OTOFACIAL NEURODEVELOPMENTAL SYNDROME
Otofacioosseous-Gonadal Syndrome
Otoonychoperoneal Syndrome
otopalatodigital syndrome spectrum disorder +
otospondylomegaepiphyseal dysplasia, autosomal recessive
ovarian hyperstimulation syndrome
overactive bladder syndrome
oxoglutarate dehydrogenase deficiency
Pachygyria with Mental Retardation, Seizures, and Arachnoid Cysts
Paget's disease of bone 5
Palant Cleft Palate Syndrome
Pallister Killian Syndrome
Pallister-Hall syndrome +
palmoplantar keratoderma and woolly hair +
palmoplantar keratoderma-deafness syndrome
palmoplantar keratoderma-esophageal carcinoma syndrome
Panic Disorder with Joint Laxity
pantothenate kinase-associated neurodegeneration
Papillon-Lefevre disease +
Parana Hard Skin Syndrome
Paraneoplastic Syndromes +
Partial Aphalangia with Syndactyly and Duplication of Metatarsal IV
Partial Atrioventricular Septal Defect, with Heterotaxy Syndrome
Partial Duplication 15q Syndrome
partial fetal alcohol syndrome
Partial Trisomy 3q Syndrome
Partington Anderson Syndrome
Pascual Castroviejo Syndrome
Patella Hypoplasia Mental Retardation
patellofemoral pain syndrome
Patent Ductus Arteriosus and Bicuspid Aortic Valve with Hand Anomalies
Patterson Pseudoleprechaunism Syndrome
Patterson Stevenson Syndrome
Pavone Fiumara Rizzo Syndrome
Pelvis-Shoulder Dysplasia
Penoscrotal Transposition
periodic limb movement disorder
permanent neonatal diabetes mellitus +
Perniola Krajewska Carnevale Syndrome
peroxisomal acyl-CoA oxidase deficiency
Peroxisome biogenesis disorder 10B
Peroxisome biogenesis disorder 11B
peroxisome biogenesis disorder 14B
peroxisome biogenesis disorder 1B
peroxisome biogenesis disorder 2B
peroxisome biogenesis disorder 3B
Peroxisome biogenesis disorder 4B
Peroxisome biogenesis disorder 5B
Peroxisome biogenesis disorder 6B
Peroxisome biogenesis disorder 7B
Peroxisome biogenesis disorder 8B
Peroxisome biogenesis disorder 9B
persistent fetal circulation syndrome
persistent Mullerian duct syndrome
Petty Laxova Wiedemann Syndrome
Pfeiffer Kapferer Syndrome
Pfeiffer Palm Teller Syndrome
Pfeiffer Rockelein Syndrome
Pfeiffer Tietze Welte Syndrome
Pheochromocytoma Islet Cell Tumor Syndrome
PHOSPHORIBOSYLAMINOIMIDAZOLE CARBOXYLASE DEFICIENCY
Photogenic Epilepsy with Spastic Diplegia and Mental Retardation
photosensitive trichothiodystrophy 1
photosensitive trichothiodystrophy 2
photosensitive trichothiodystrophy 3
Piepkorn Karp Hickok syndrome
pigment dispersion syndrome
Pilarowski-Bjornsson Syndrome
Pinheiro Freire-Maia Miranda Syndrome
Piriformis Muscle Syndrome +
Pitt-Hopkins-like syndrome 2
Pituitary Stalk Interruption Syndrome
Piussan Lenaerts Mathieu syndrome
plasminogen deficiency type I
platelet-type bleeding disorder 10
platelet-type bleeding disorder 11
platelet-type bleeding disorder 18
platelet-type bleeding disorder 19
platelet-type bleeding disorder 8
poikiloderma with neutropenia
POIRIER-BIENVENU NEURODEVELOPMENTAL SYNDROME
polycystic kidney disease +
Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephaly +
polycystic ovary syndrome +
Polydactyly Myopia Syndrome
Polyendocrine-Polyneuropathy Syndrome
polyhydramnios, megalencephaly, and symptomatic epilepsy
Polyosteolysis-Hyperostosis Syndrome
pontocerebellar hypoplasia type 11
pontocerebellar hypoplasia type 12
pontocerebellar hypoplasia type 13
pontocerebellar hypoplasia type 14
pontocerebellar hypoplasia type 15
pontocerebellar hypoplasia type 16
pontocerebellar hypoplasia type 1A
pontocerebellar hypoplasia type 1B
pontocerebellar hypoplasia type 1C
pontocerebellar hypoplasia type 1D
pontocerebellar hypoplasia type 1E
pontocerebellar hypoplasia type 1F
pontocerebellar hypoplasia type 2A
pontocerebellar hypoplasia type 2B
pontocerebellar hypoplasia type 2C
pontocerebellar hypoplasia type 2D
pontocerebellar hypoplasia type 2E
pontocerebellar hypoplasia type 2F
poor metabolism of thiopurines +
Porcine Postweaning Multisystemic Wasting Syndrome
Porcine Reproductive and Respiratory Syndrome
PORETTI-BOLTSHAUSER SYNDROME
post-cardiac arrest syndrome
postaxial acrofacial dysostosis
Postaxial Polydactyly, with Dental and Vertebral Anomalies
postcholecystectomy syndrome
Posterior Exchondrosis of Pinna
Posterior Leukoencephalopathy Syndrome
postgastrectomy syndrome +
Postpericardiotomy Syndrome
postpoliomyelitis syndrome
postural orthostatic tachycardia syndrome
Poult Enteritis Mortality Syndrome
Powell Chandra Saal Syndrome
Powell Venencie Gordon syndrome
Prata Libéral Gonçalves Syndrome
Pre-Excitation Syndromes +
Preauricular Fistulae, Congenital
preaxial polydactyly II +
Preeyasombat Varavithya Syndrome
Premature Aging, Okamoto Type
Presumed Ocular Histoplasmosis Syndrome
primary autosomal recessive microcephaly +
primary ciliary dyskinesia 38
primary ciliary dyskinesia 39
primary ciliary dyskinesia 40
primary ciliary dyskinesia 41
primary ciliary dyskinesia 42
primary ciliary dyskinesia 44
primary ciliary dyskinesia 45
primary coenzyme Q10 deficiency 9
primary hypertrophic osteoarthropathy +
primary immunodeficiency disease +
primary ovarian insufficiency 10
primary ovarian insufficiency 12
primary ovarian insufficiency 13
primary ovarian insufficiency 14
primary ovarian insufficiency 15
primary ovarian insufficiency 18
primary ovarian insufficiency 19
primary ovarian insufficiency 8
primary ovarian insufficiency 9
Progeroid Facial Appearance with Hand Anomalies
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Recessive +
progressive familial intrahepatic cholestasis 1
progressive familial intrahepatic cholestasis 2
progressive familial intrahepatic cholestasis 3
progressive familial intrahepatic cholestasis 4
progressive familial intrahepatic cholestasis 5
progressive leukoencephalopathy with ovarian failure
progressive myoclonus epilepsy 10
progressive myoclonus epilepsy 1A
progressive myoclonus epilepsy 1B
progressive myoclonus epilepsy 3
progressive myoclonus epilepsy 4
progressive myoclonus epilepsy 6
progressive myoclonus epilepsy 8
progressive myoclonus epilepsy 9
Progressive Ophthalmoplegia with Scrotal Tongue and Mental Deficiency
progressive osseous heteroplasia
progressive pseudorheumatoid arthropathy of childhood
Progressive Vitiligo with Mental Retardation and Urethral Duplication
proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome
Prolonged Bleeding Time, Brachydactyly, and Mental Retardation
Propofol Infusion Syndrome
proprotein convertase 1/3 deficiency
proteasome-associated autoinflammatory syndrome 1
proteosome-associated autoinflammatory syndrome +
proteosome-associated autoinflammatory syndrome 3
proteosome-associated autoinflammatory syndrome 4
proteosome-associated autoinflammatory syndrome 5
Proximal Renal Tubular Acidosis, with Ocular Abnormalities and Mental Retardation
Prune Belly Syndrome with Pulmonic Stenosis, Mental Retardation, and Deafness
Pseudo-Zellweger Syndrome
Pseudoaminopterin Syndrome
Pseudotrisomy 13 Syndrome
Pseudouridinuria and Mental Defect
pseudoxanthoma elasticum +
Psychomotor Retardation, Epilepsy, and Craniofacial Dysmorphism
pulmonary venoocclusive disease 2
purine nucleoside phosphorylase deficiency
pyridoxine-dependent epilepsy +
pyruvate kinase deficiency of red cells
Radial Defect Robin Sequence
Radial Hypoplasia, Triphalangeal Thumbs and Hypospadias
Radial Ray Hypoplasia Choanal Atresia
Radio-Ulnar Synostosis Type 1
Radio-Ulnar Synostosis Type 2
Radiohumeral Fusions with Other Skeletal and Craniofacial Anomalies
Radioulnar Synostosis Retinal Pigment Abnormalities
Rajab Interstitial Lung Disease with Brain Calcifications +
Ramos Arroyo Clark Syndrome
Rasmussen Johnsen Thomsen Syndrome
Ray Peterson Scott Syndrome
Reardon Hall Slaney syndrome
Reardon Wilson Cavanagh Syndrome
recessive dystrophic epidermolysis bullosa
Recombinant Chromosome 8 Syndrome
Reginato Schiapachasse Syndrome
Renal Dysplasia - Limb Defects Syndrome
Renal Hypophosphatemia with Intracerebral Calcifications
Renal Nutcracker Syndrome
retinal cone dystrophy 3B
retinal dystrophy with leukodystrophy
Retinal Dystrophy, Iris Coloboma, and Comedogenic Acne Syndrome
Retinal Dystrophy, Juvenile Cataracts, and Short Stature Syndrome
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, and Migraine Headache Syndrome
retinitis pigmentosa with or without situs inversus
Retinitis Pigmentosa, Deafness, Mental Retardation, and Hypogonadism
Retinohepatoendocrinologic Syndrome
rhizomelic chondrodysplasia punctata +
Rhizomelic Dysplasia Patterson Lowry Type
RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES
Richieri Costa Da Silva Syndrome
Richieri Costa Guion-Almeida Syndrome
Richieri Costa Pereira Syndrome
Ridges-off-the-end Syndrome
rigid spine muscular dystrophy 1
Ring Chromosome 14 Syndrome
Ring Chromosome 20 Syndrome
Ring Chromosome 4 Syndrome
Ritscher-Schinzel syndrome +
Ritscher-Schinzel syndrome 1
Ritscher-Schinzel syndrome 2
RNASET2-deficient cystic leukoencephalopathy
Robin Sequence with Distinctive Facial Appearance and Brachydactyly
Robinson Miller Bensimon Syndrome
Roifman-Chitayat Syndrome
ROLANDIC EPILEPSY, INTELLECTUAL DISABILITY, AND SPEECH DYSPRAXIA, X-LINKED
Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia, Autosomal Dominant
Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome
Rommen Mueller Sybert Syndrome
Rosenthal-Kloepfer Syndrome
Rosselli-Gulienetti Syndrome
Rothmund-Thomson syndrome +
Rowley-Rosenberg Syndrome
Roy Maroteaux Kremp Syndrome
Rozin Hertz Goodman Syndrome
Rubella Syndrome, Congenital
Rubinstein Taybi like Syndrome
Rubinstein-Taybi syndrome +
Ruvalcaba Churesigaew Myhre Syndrome
Ruzicka Goerz Anton syndrome
Sackey Sakati Aur Syndrome
Sacral Meningocele Conotruncal Heart Defects
Saito Kuba Tsuruta Syndrome
Sammartino De Crecchio Syndrome
Sanderson Fraser Syndrome
Sandestig-Stefanova syndrome
Sandhaus Ben-Ami Syndrome
Santos Mateus Leal Syndrome
Sao Paulo MCA/MR Syndrome
SATB2-associated syndrome
Say Field Coldwell Syndrome
Say-Barber-Miller Syndrome
Scaphocephaly, Maxillary Retrusion, and Impaired Intellectual Development
Schaap Taylor Baraitser Syndrome
Schaefer Stein Oshman Syndrome
Schimke immuno-osseous dysplasia
Schimke X-Linked Mental Retardation Syndrome
Schinzel Giedion syndrome
Schlegelberger Grote Syndrome
Schofer Beetz Bohl Syndrome
Schrander-Stumpel Theunissen Hulsmans Syndrome
Schuurs-Hoeijmakers syndrome
Schwartz Cohen-Addad Lambert Syndrome
Schwartz-Jampel syndrome 1
Schweitzer Kemink Graham Syndrome
Scimitar Anomaly, Multiple Cardiac Malformations, and Craniofacial and Central Nervous System Abnormalities
Sclerosing Bone Dysplasia, Mental Retardation
Sd(a) POLYAGGLUTINATION SYNDROME
seasonal affective disorder
Seckel Like Syndrome Type Buebel
Second Metatarsal-Metacarpal Syndrome
Seizures, Cortical Blindness, and Microcephaly Syndrome
SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME
Selig Benacerraf Greene Syndrome
Sensorineural Deafness and Migraine
sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
sepiapterin reductase deficiency
Seres-Santamaria Arimany Muniz Syndrome
Sertoli cell-only syndrome +
Sessile Serrated Polyposis Cancer Syndrome
severe acute respiratory syndrome
severe combined immunodeficiency with sensitivity to ionizing radiation
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive +
severe congenital neutropenia 3
severe congenital neutropenia 4 +
severe congenital neutropenia 5
severe congenital neutropenia 6
severe congenital neutropenia 7
Severe Mental Retardation, with Spasticity and Pigmentary Tapetoretinal Degeneration
Sharma Kapoor Ramji Syndrome
Short Stature and Facioauriculothoracic Malformations
Short Stature, Brachydactyly, Intellectual Developmental Disability, and Seizures
Short Stature, Facial Dysmorphism, and Skeletal Anomalies with or without Cardiac Anomalies +
short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2
short stature, hearing loss, retinitis pigmentosa, and distinctive facies
Short Stature, Impaired Intellectual Development, Callosal Agenesis, Heminasal Hypoplasia, Microphthalmia, and Atypical Clefting
SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES
SHORT STATURE-MICROGNATHIA SYNDROME
Short Stature-Obesity Syndrome
short-rib thoracic dysplasia 10 with or without polydactyly
short-rib thoracic dysplasia 11 with or without polydactyly
short-rib thoracic dysplasia 13 with or without polydactyly
short-rib thoracic dysplasia 14 with polydactyly
short-rib thoracic dysplasia 18 with polydactyly
short-rib thoracic dysplasia 19 with or without polydactyly
short-rib thoracic dysplasia 6 with or without polydactyly
short-rib thoracic dysplasia 7 with or without polydactyly
short-rib thoracic dysplasia 8 with or without polydactyly
short-rib thoracic dysplasia 9 with or without polydactyly
shoulder impingement syndrome
Shprintzen Omphalocele Syndrome
sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay
Siegler Brewer Carey Syndrome
Sifrim-Hitz-Weiss syndrome
Silengo Lerone Pelizza Syndrome
Silver-Russell syndrome +
Silverman-Handmaker type dyssegmental dysplasia
Simian Acquired Immunodeficiency Syndrome
Simosa Cranio Facial Syndrome
Simpson-Golabi-Behmel syndrome type 1
Simpson-Golabi-Behmel syndrome type 2
Singh Chhaparwal Dhanda Syndrome
Singleton Merten Syndrome +
Sjogren-Larsson syndrome +
Sjogren-Larsson-like Syndrome
Sjögren-Mikulicz Syndrome
Skeletal Defects, Genital Hypoplasia, And Mental Retardation
Sketetal Dysplasia Coarse Facies Mental Retardation
Skraban-Deardorff Syndrome
Slavotinek Pike Mills Hurst Syndrome
Smith-Lemli-Opitz syndrome +
Snijders Blok-Campeau Syndrome
SOST-related sclerosing bone dysplasia
Spastic Diplegia Infantile Type
Spastic Paraplegia and Evans Syndrome
spastic paraplegia with deafness
Spastic Paraplegia, Ataxia, and Mental Retardation
Spastic Paraplegia, Epilepsy, Mental Retardation
SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY
Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, and Progressive Nephropathy
Spastic Paresis, Glaucoma, and Mental Retardation
Spastic Quadriplegia, Retinitis Pigmentosa, and Mental Retardation
spastic quadriplegic cerebral palsy 3
Spinal Muscular Atrophy with Mental Retardation
Spinal Muscular Atrophy with Microcephaly and Mental Subnormality
spinal muscular atrophy with progressive myoclonic epilepsy
Splenogonadal Fusion with Limb Defects and Micrognathia
Split Hand, Split Foot, Nystagmus
split hand-foot malformation 1 with sensorineural hearing loss
split hand-foot malformation 6
Split-Hand with Obstructive Uropathy, Spina Bifida, and Diaphragmatic Defects
spondylocarpotarsal synostosis syndrome
spondylocostal dysostosis 1
Spondylocostal Dysostosis, Autosomal Recessive +
spondyloepimetaphyseal dysplasia with joint laxity +
spondyloepimetaphyseal dysplasia with joint laxity type 1
spondyloepimetaphyseal dysplasia with joint laxity type 3
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
spondyloepimetaphyseal dysplasia, Genevieve-type
spondyloepimetaphyseal dysplasia, Pakistani type
spondyloepimetaphyseal dysplasia, Sponastrime type
spondyloepimetaphyseal dysplasia, Strudwick type
spondyloepiphyseal dysplasia Kondo-Fu type
spondyloepiphyseal dysplasia tarda with characteristic facies
spondyloepiphyseal dysplasia tarda with intellectual disability
Spondyloepiphyseal Dysplasia with Atlantoaxial Instability
spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and intellectual disability
spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and Leber congenital amaurosis
Spondylohypoplasia, Arthrogryposis and Popliteal Pterygium
spondylometaepiphyseal dysplasia, short limb-hand type
spondylometaphyseal dysplasia Megarbane-Dagher-Melike type
spondylometaphyseal dysplasia Sedaghatian type
spondylometaphyseal dysplasia with cone-rod dystrophy
spondylometaphyseal dysplasia with corneal dystrophy
Spondyloocular Syndrome, Autosomal Recessive
Spranger Schinzel Myers Syndrome
Squalene Synthase Deficiency
Stankiewicz-Isidor Syndrome
Stargardt Macular Degeneration Absent or Hypoplastic Corpus Callosum Mental Retardation and Dysmorphic Features
Stern Lubinsky Durrie Syndrome
Stocco Dos Santos type X-linked intellectual disability
Stoelinga-de Koomen-Davis Syndrome
Stolerman neurodevelopmental syndrome
Stoll Alembik Dott Syndrome
Stoll Levy Francfort Syndrome
Stomatin-Deficient Cryohydrocytosis with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly
stress-induced childhood-onset neurodegeneration with variable ataxia and seizures
STRUCTURAL BRAIN ANOMALIES WITH IMPAIRED INTELLECTUAL DEVELOPMENT AND CRANIOSYNOSTOSIS
Structural Heart Defects and Renal Anomalies Syndrome
Stuve-Wiedemann Syndrome +
subclavian steal syndrome
Sucrosuria, Hiatus Hernia and Mental Retardation
sudden infant death syndrome +
Sudden Unexpected Nocturnal Death Syndrome
SULEIMAN-EL-HATTAB SYNDROME
superior mesenteric artery syndrome +
Superior Vena Cava Syndrome
Supernumerary Der(22)t(8;22) Syndrome
supine hypotensive syndrome
Symphalangism with Multiple Anomalies of Hands and Feet
Symphalangism, C. S. Lewis Type
Syndactyly-Polydactyly-Earlobe Syndrome
syndactyly-telecanthus-anogenital and renal malformations syndrome
syndromic intellectual disability +
syndromic microphthalmia 8
syndromic microphthalmia 9
syndromic X-linked intellectual disability Abidi type
syndromic X-linked intellectual disability Siderius type
syndromic X-linked intellectual disability Turner type
syndromic X-linked intellectual disorder Lujan-Fryns-type
Synpolydactyly with Foot Anomalies
Systemic Inflammatory Response Syndrome +
T-cell immunodeficiency, congenital alopecia, and nail dystrophy
Takenouchi-Kosaki Syndrome
TANGO2-related metabolic encephalopathy and arrythmias
tarsal-carpal coalition syndrome +
Tatton-Brown-Rahman syndrome
Teebi hypertelorism syndrome +
Teebi Naguib Al Awadi syndrome
Tel Hashomer Camptodactyly Syndrome
Telfer Sugar Jaeger Syndrome
Temple-Baraitser syndrome
Temporomandibular Joint Dysfunction Syndrome
temtamy preaxial brachydactyly syndrome
terminal osseous dysplasia
Tessadori-van Haaften Neurodevelopmental Syndrome 2
tethered spinal cord syndrome
Tetraphocomelia-Thrombocytopenia Syndrome
Thai Symphalangism Syndrome
THAUVIN-ROBINET-FAIVRE SYNDROME
Theodor Hertz Goodman Syndrome
thiamine-responsive megaloblastic anemia syndrome
Thomas Jewett Raines Syndrome
Thompson Baraitser Syndrome
Thoracic Dysplasia-Hydrocephalus Syndrome
Thoracolaryngopelvic Dysplasia
Thrombocytopenia Absent Ulnar Syndrome
thrombocytopenia-absent radius syndrome
Thymic Aplasia with Fetal Death
Thyrocerebral-Retinal Syndrome
thyroid dyshormonogenesis 1
thyroid dyshormonogenesis 2A
thyroid dyshormonogenesis 3
thyroid dyshormonogenesis 4
thyroid dyshormonogenesis 5
thyroid dyshormonogenesis 6
thyroid hormone resistance syndrome +
Tn polyagglutination syndrome
Tolchin-Le Caignec Syndrome
Tollner Horst Manzke Syndrome
Tranebjaerg Svejgaard syndrome
transient bullous dermolysis of the newborn
transient infantile liver failure
Treacher Collins syndrome +
Treacher Collins syndrome 2
Treacher Collins syndrome 3
Treft Sanborn Carey Syndrome
Tricho-Dento-Osseous Syndrome 1
trichodontoosseous syndrome
trichohepatoenteric syndrome +
Trichohepatoneurodevelopmental Syndrome
Trichorhinophalangeal Syndrome +
trichorhinophalangeal syndrome type III
Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, and Abnormalities of the Hands and Feet
Triphalangeal Thumbs with Brachyectrodactyly
Trueb Burg Bottani Syndrome
Tryptophanuria with Dwarfism
Tumor Predisposition Syndrome +
Tunglang Savage Bellman Syndrome
Ullrich congenital muscular dystrophy +
Ulna Metaphyseal Dysplasia Syndrome
Ulnar Hypoplasia with Lobster-Claw Deformity of Feet
Ulnar Hypoplasia with Mental Retardation
Uncombable Hair Syndrome +
Unilateral Aplasia of Extensor Muscles of Fingers, with Generalized Polyneuropathy
Urban Schosser Spohn Syndrome
Urioste Martinez-Frias Syndrome
Uropathy Distal Obstructive Polydactyly
Uruguay faciocardiomusculoskeletal syndrome
uveal coloboma-cleft lip and palate-intellectual disability
Van Bogaert-Hozay Syndrome
Van den Ende-Gupta syndrome
Van der Hoeve Halbertsma Waardenburg Gualdi Syndrome
Van Maldergem syndrome + A syndrome characterized by facial abnormalities such as telecanthus, epicanthus, broad flattened nose, large inverted W-shaped mouth and malformed ears, malformed extremities such as camptodactyly, clinodactyly, interdigital webbing and joint hyperlaxity and mental retardation. (DO)
Vasquez Hurst Sotos Syndrome
Velofacioskeletal Syndrome
Ventricular Extrasystoles Perodactyly Robin Sequence
ventriculomegaly - cystic kidney disease
Verloes Gillerot Fryns Syndrome
Verloes Van Maldergem Marneffe Syndrome
Verloove-Vanhorick Brubakk Syndrome
vertebral anomalies and variable endocrine and T-cell dysfunction
vertebral artery insufficiency +
Vertebral Body Fusion Overgrowth
vertebral hypersegmentation and orofacial anomalies
Vertebral, Cardiac, Renal, and Limb Defects Syndromes +
VERTEBRAL, CARDIAC, TRACHEOESOPHAGEAL, RENAL, AND LIMB DEFECTS
Viljoen Kallis Voges Syndrome
visual impairment and progressive phthisis bulbi
vitamin D-dependent rickets type 1A
vitamin D-dependent rickets type 1B
vitamin D-dependent rickets type 2A
Vogt-Koyanagi-Harada disease
Volcke Soekarman Syndrome
Walbaum Titran Durieux Crepin Syndrome
Walker-Warburg syndrome +
Warburton Anyane Yeboa Syndrome
Waterhouse-Friderichsen syndrome +
Weill-Marchesani syndrome +
Weinstein Kliman Scully Syndrome
Weissenbacher-Zweymuller syndrome +
Wellesley Carmen French Syndrome
Weyers acrofacial dysostosis
Weyers Ulnar Ray/Oligodactyly Syndrome
White Forelock with Malformations
Whyte Murphy Fallon Sly syndrome
Wiedemann Grosse Dibbern Syndrome
Wiedemann Oldigs Oppermann Syndrome
Wiedemann-Rautenstrauch syndrome
Wiedemann-Steiner syndrome
Williams-Beuren syndrome +
Winship Viljoen Leary Syndrome
Winter Harding Hyde Syndrome
Winter Shortland Temple Syndrome
Wolcott-Rallison syndrome
Woodhouse-Sakati syndrome
Woods Black Norbury Syndrome
Woods Leversha Rogers Syndrome
Woolly Hair, Hypotrichosis, Everted Lower Lip and Outstanding Ears
X-Linked Intellectual Developmental Disorders +
X-linked intellectual disability-psychosis-macroorchidism syndrome
X-linked retinitis pigmentosa and sinorespiratory infections
Yemenite Deaf-Blind Hypopigmentation Syndrome
Yoon-Bellen neurodevelopmental syndrome
YUKSEL-VOGEL-BAUER SYNDROME
Zadik Barak Levin Syndrome
Zazam Sheriff Phillips Syndrome
Zerres Rietschel Majewski Syndrome
Zika virus congenital syndrome
Zimmerman Laband Syndrome +
Zori Stalker Williams Syndrome
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